Metabolic Disorders - SCDHEC
Metabolic Disorders
Amino Acid Metabolism Disorders
Phenylketonuria (PKU)Hyperphenylalanemia is an amino acid disorder caused by decreased activity, impaired synthesisor recycling of phenylalanine hydroxylase or its cofactor, BH4. Phenylketonuria (PKU) is causedby deficiency of phenylalanine hydroxylase. Without this enzyme, the body is unable to convertphenylalanine (PHE) into tyrosine (TYR). Phenylalanine accumulates in the blood, urine, andcentral nervous system.If left untreated, the infant will experience profound Intellectual disability (ID). She or he couldalso have decreased pigmentation of the skin and hair, a musty odor, unusual behavior, and/orseizures. Screening for PKU can also identify infants with benign hyperphenylalaninemia,defects of biopterin cofactor biosynthesis and defects of biopterin cofactor regeneration.Inheritance:Autosomal recessiveEstimated Incidence:PKU—1:16,000Benign hyperphenylalaninemia (H-PHE) - unknownDefects of biopterin cofactors biosynthesis (BIOPT-BS) orregeneration (BIOPT-REG) —unknown, thought to be very rareAbnormal Screen Result:Elevated PHEElevated PHE/TYRMethod of Notification:All abnormal results are called to provider of record.Next Steps if Abnormal:Repeat amino acid profile as soon as possible on filter paper. Noformula/feeding change until results of repeat are known. If PHE isstill elevated in the repeat specimen, refer to a pediatricmetabolic specialist.Further diagnostic evaluation may be necessary to rule out BH4defects. The metabolic specialist will initiate PHE restricted diet incoordination with a metabolic dietitian. Report all findings tostate newborn screening program.Neonatal Presentation:None.Treatment:PKU/defects of biopterin cofactor biosynthesis or regeneration:PHE restricted diet for life. Special metabolic formula is availableto all SC residents, currently at no charge. BH4 defects requireadditional diagnostic evaluation and treatment. Some persons withPKU are responsive to sapopterin, a pharmaceutical formulation oftetrahydrobiopterin, which can enhance residual phenylalaninehydroxylase activity.Benign hyperphenylalaninemia: usually none
Special ConsiderationsMaternal PKU and Hyperphenylalaninemia--Women with poorly controlled PKU have anincreased risk of pregnancy loss. In studies of women with PKU, when PHE levels were notstrictly controlled, the following outcomes were found in 90% of such pregnancies: intrauterinegrowth retardation, microcephaly, Intellectual disability (ID) and/or birth defects, particularlycongenital heart defects.Therefore, it is vital that women with PKU maintain phenylalanine levels between 120 and 360µM/L. Excellent control prior to conception and during pregnancy can help prevent damage tothe developing fetus.
Homocystinuria (HCY)Homocystinuria (HCY) is caused primarily by a deficiency in the enzyme cystathioninesynthetase leading to the accumulation of methionine (MET) in the blood. Untreated infants areat risk for Intellectual disability (ID), dislocated lens, marfanoid body type, developmental delayand thromboembolism.Screening for homocystinuria may also identify infants with hypermethioninemia. Primaryhypermethioninemia that is not caused by other disorders, liver disease or excess methionineintake appears to be extremely rare.Inheritance:Autosomal recessiveEstimated Incidence:Homocystinuria—1:200,000Primary hypermethioninemia (HMET) - unknown, very rareAbnormal Screen Result:Elevated METElevated MET/PHEMethod of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat amino acid profile on filter paper. Consult pediatricmetabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:NoneTreatment:Some affected persons respond to Vitamin B6, the cofactor ofcystathionine synthetase, with biochemical correction orimprovement. If affected persons show only partial response or arenonresponsive to Vitamin B6, then a MET restricted diet for life isnecessary. Betaine often used.
Maple Syrup Urine Disease (MSUD)Maple syrup urine disease (MSUD) is caused by deficiencies in the branched chain keto-aciddehydrogenase complex leading to the accumulation of leucine (LEU), isoleucine (ILE), valine(VAL) and alloisoleucine. Cerumen, urine or sweat may smell faintly of maple syrup.Untreated infants with MSUD who survive infancy have retarded physical and mentaldevelopment. Milder variants have been reported and may not be picked up by newbornscreening.Inheritance:Autosomal recessiveEstimated Incidence:1:185,000Abnormal Screen Result:Elevated LEU ILEElevated VALElevated LEU ILE/PHEElevated VAL/PHEMethod of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:Potential medical emergency! See infant as soon as possible toascertain health status and repeat amino acid profile on filterpaper. Consult pediatric metabolic specialist for furtherinstructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:May show neurological impairment in first week of life. Lethargyand poor suck are often the first signs followed by abnormalmuscle tone, involuntary movements, seizures and coma.Treatment:LEU restricted/ILE, VAL controlled diet for life. Some affectedpersons with a less severe form of MSUD are thiamin responsive.Special ConsiderationsFasting/infection/intercurrent illness - Parents must clearly understand that minor illnesses canprecipitate metabolic decompensation in an infant/child with this disorder and should seekmedical attention with any concern. Urinary ketones may be monitored as a precaution duringillness. Ketonuria can be an early sign of metabolic decompensation and frequently precedesclinical signs.
CitrullinemiaCitrullinemia I (CIT I) is a urea cycle disorder caused primarily by a deficiency of the enzymeArgininosuccinic acid synthetase. Citrulline (CIT) and ammonia build up in the blood which canlead to lethargy, seizures, coma and death. Citrullinemia II (CIT II) is also a urea cycle disorder.It is caused by a deficiency of the protein citrin which is necessary for many metabolicprocesses. In the neonatal onset type of CIT II, bile flow is blocked.Inheritance:Autosomal recessiveEstimated Incidence:CIT I—1:57,000CIT II—1:100,000 primarily in persons of Japanese, East Asian orMiddle Eastern ancestryAbnormal Screen Result:Elevated CITMethod of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:Potential medical emergency! See infant as soon as possible toascertain health status. Consult pediatric metabolic specialistfor further instructions. Emergency treatment may includeprovision of sufficient nonprotein calories to preventcatabolism; Na benzoate or Na phenylacetate; IV arginine.Dialysis may be necessary to lower ammonia level.Repeat amino acid profile as soon as possible on filter paper.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:May show neurological deterioration in first week of life.Lethargy, poor feeding, vomiting, grunting respirations, tachypnea,and hypothermia progress to seizures, encephalopathy and deathunless quickly treated.Treatment:High calorie, protein restricted, ARG supplemented diet. Nabenzoate, Na phenylacetate, Na phenylbutyrate may be used tohelp decrease accumulated toxic precursorsSpecial ConsiderationsFasting/infection/intercurrent illness - Parents must clearly understand that minor illnesscan precipitate metabolic decompensation in an infant/child with this disorder and should seekmedical attention with any concern.
Argininosuccinic Aciduria (ASA)Argininosuccinic aciduria (ASA) is a urea cycle disorder caused primarily by a deficiency of theenzyme Argininosuccinic acid lyase. Argininosuccinic acid, citrulline (CIT) and ammonia buildup in the blood which can lead to lethargy, seizures, coma and death.Inheritance:Autosomal recessiveEstimated Incidence:1:70,000Abnormal Screen Result:Elevated CITMethod of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:Potential medical emergency! See infant as soon as possible toascertain health status. Consult pediatric metabolic specialistfor further instructions. Emergency treatment may includeprovision of sufficient nonprotein calories to preventcatabolism, Na benzoate or Na phenylacetate, IV arginine.Dialysis may be necessary to lower ammonia level.Repeat amino acid profile as soon as possible on filter paper.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:May show neurological deterioration in first week of life.Lethargy, poor feeding, vomiting, respiratory alkalosis, andhypothermia progress to seizures, encephalopathy and deathunless quickly treated.Treatment:High calorie, protein restricted, ARG supplemented diet. Nabenzoate, Na phenylacetate, Na phenylbutyrate may be used tohelp decrease accumulated toxic precursors.Special ConsiderationsFasting/infection/intercurrent illness - Parents must clearly understand that minor illness canprecipitate metabolic decompensation in an infant/child with this disorder and should seekmedical attention with any concern.
TyrosinemiaTyrosinemia I (TYR I) is caused by a deficiency in the enzyme fumarylacetoacetase. Untreatedinfants are at risk for liver failure, jaundice, growth retardation and eventual hepatocellularcarcinoma. Tyrosinemia Type II or III (TYR II or III) can also be identified by screening.TYR II is caused by a deficiency in the enzyme tyrosine aminotransferase. TYR III is caused bya deficiency in the enzyme 4-OH phenylpyruvate dioxygenase.Untreated infants with TYR II are at risk for eye and skin lesions with neurological problemsincluding developmental delay. The clinical features of TYR III are not well described.However, Intellectual disability (ID) and behavioral problems have been found in affectedpersons.Inheritance:Autosomal recessiveEstimated Incidence:TYR I - 1:100,000TYR II - 1:250,000TYR III - unknown, thought to be very rareAbnormal Screen Result:TYR I - Elevated TYR and succinyl acetone (SUAC)TYR II or III - Elevated TYR with normal SUACMethod of Notification:All abnormal SUAC results are called to provider of record. TYRresults greater than 800 µM are called to the provider of record.Other abnormal TYR results are mailed to provider of record.Next Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat SUAC and amino acid profile on filter paper. Consultpediatric metabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:All forms—usually none.Treatment:TYR I: TYR and PHE restricted diet for life. NTBC (Nitisinone)also used to inhibit the degradation of tyrosine and the formationof toxic metabolites. Liver transplantation, if indicated.TYR II or III: TYR and PHE restricted diet for life.Special ConsiderationsPremature/sick infants - Transient Tyrosinemia of the Newborn is the most common amino aciddisorder found in infants, especially those who are premature and/or sick. However, promptrepeat screening is needed as a precaution.
Carbohydrate Metabolism Disorders
GalactosemiaGalactosemia is a condition of abnormal galactose metabolism caused by deficient functioning ofany of three separate enzymes. These include galctose-1-P-uridyl transferase (GALT) deficiencyor classic galactosemia; galactokinase deficiency (GALK); and UDP galactose-4-epimerasedeficiency (GALE). Individuals with galactosemia are unable to break down and use the sugargalactose (a component of lactose found primarily in dairy products and human milk).If undiagnosed, the affected infant with classical galactosemia may develop gastrointestinaldisturbances, fail to gain weight and become jaundiced. Life-threatening infection can occur inthe newborn period. Intellectual disability (ID) and delayed physical growth occur in untreatedinfants who survive.Some infants with low levels of GALT are subsequently diagnosed with a form of galactosemiacalled Duarte variant galactosemia. Almost all cases of Duarte variant galactosemia are benign;however, a few affected infants may be treated during the first year of life as a precaution.Infants with GALK deficiency only have cataracts. Infants with GALE deficiency will havevarying outcomes. If the GALE deficiency is localized in the red blood cell, the infant does nothave any symptoms of disease and no treatment is necessary. If the GALE deficiency involvesother tissues, the clinical course is like that of GALT deficiency. The diagnostic work-up mayalso identify infants who are genetic carriers for one of the forms of galactosemia.Inheritance:Autosomal recessiveEstimated Incidence:GALT (classic galactosemia)—1:60,000Duarte variant galactosemia—1:16,000GALK unknown, thought to be rareGALE unknown, thought to be very rareAbnormal Screen Result:Elevated total galactose with low GALT: at risk for classicalgalactosemia.Normal total galactose with very low GALT: at risk for Duartegalactosemia, or at risk for classical galactosemia, if infant onnon-lactose feeding at time of screening.Elevated total galactose with normal GALT: at risk for GALKor GALE deficiency.Method of Notification:All results where the GALT is low and total galactose is elevatedare called to provider of record. Other combinations of results aremailed to provider of record.Next Steps if Abnormal:Potential medical emergency when GALT is low and totalgalactose is elevated. See infant as soon as possible to ascertain
health status. Change to soy based formula when GALT is low andtotal galactose is elevated. Report all findings to state newbornscreening program.If total galactose is not elevated, consider change to soy basedformula based upon clinical observation and recommendation frompediatric metabolic specialist. In most circumstances, at leastpartial breastfeeding is possible if total galactose is not elevated.Repeat galactosemia screening as soon as possible. Consultpediatric metabolic specialist for further instructions anddiagnostic evaluation.If GALT is normal in the initial specimen, repeat galactosemiascreening as soon as possible. NO NEED TO STOP BREASTFEEDING OR CHANGE FORMULA TYPE at this time.If total galactose remains elevated in the repeat specimen or if theGALT result is now low, consult pediatric metabolic specialist forfurther diagnostic evaluation and feeding recommendations.Neonatal Presentation:GALT - hypoglycemia, jaundice, sepsis, failure to thriveDuarte variant galactosemia - NoneGALK - NoneGALE - Usually noneTreatment:Galactose restricted diet for life.Special ConsiderationsReporting of Feeding Type - It is crucial that staff report whether the infant is on a lactosecontaining feeding (breast milk or cow's milk based infant formula), a soy based infant formulaor any other non-lactose containing feeding (including IV fluids or total parenteralnutrition/hyperalimentation) so that the lab test can be interpreted appropriately.Exposure of the Specimen to Heat/Humidity - Both heat and humidity can affect the test forGALT. The enzyme activity can be diminished causing a false positive result for galactosemia.Transfusion - Transfusion of red blood cells prior to drawing the newborn screening specimenmay affect the GALT result. Repeat screening for galactosemia should be done 120 days afterthe last transfusion. If the date of the last transfusion is unknown, put the date of hospitaldischarge on the collection form.
Organic Acid Metabolism Disorders
Propionic Acidemia (PROP)Propionic acidemia is a disorder of isoleucine (ILE), methionine (MET), threonine (THR), valine(VAL), and odd chain fatty acid metabolism caused by deficient activity of the enzymepropionyl coenzyme A carboxylase. This enzyme deficiency leads to the accumulation of toxicorganic acid metabolites when the affected infant is ingesting a normal diet or is under catabolicstress.Inheritance:Autosomal recessiveEstimated Incidence:1:100,000Abnormal Screen Result:Elevated C3 (propionyl carnitine)Elevated C3/C2Elevated C3/C16Method of Notification:All results where the C3 is greater than 10 μM and the C3/C2and/or C3/C16 is elevated are called to provider of record. Allresults where the C3 is greater than 15 μM are called to theprovider of record, regardless of the ratio levels. Any otherabnormal C3 results are mailed to the provider of record.Next Steps if Abnormal:Potential medical emergency when the C3 is greater than 10μM and the C3/C2 and/or C3/C16 is elevated or when the C3 isgreater than 15 μM, regardless of the ratio levels. See infant assoon as possible to ascertain health status. Consult pediatricmetabolic specialist for further instructions.Repeat acyl carnitine profile as soon as possible on filter paper.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:Poor feeding, vomiting, tachypnea, lethargy, abnormal muscletone, involuntary movements, seizures, comaTreatment:Protein restricted diet. Use of metabolic formula without ILE,MET, THR, VAL. Carnitine supplementation. Biotin trial.Special ConsiderationsFasting/infection/intercurrent illness - Parents must clearly understand that minor illnesses canprecipitate metabolic decompensation in an infant/child with an organic acid disorder and shouldseek medical attention with any concern. Urinary ketones may be monitored as a precautionduring illness. Ketonuria can be an early sign of metabolic decompensation and frequentlyprecedes clinical signs.
Malonic Acidemia (MAL)Malonic acidemia is a disorder of ketone metabolism arising from a deficiency of the enzymemalonyl CoA decarboxylase. Almost all affected infants have developmental delay. Otherfindings include hypotonia, seizures, hypoglycemia and cardiomyopathy. To date, fewer than 30cases of malonic acidemia have been reported.Inheritance:Autosomal recessiveEstimated Incidence:Unknown; thought to be very rareAbnormal Screen Result:Elevated C3DC (malonyl carnitine) C4OH (3-OH butyrylcarnitine)Elevated C3DC (malonyl carnitine) C4OH (3-OH butyrylcarnitine)/C10 (decanoyl carnitine) ratioMethod of Notification:All results where the C3DC C4OH/C10 is greater than 5 arecalled to provider of record.Next Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat acyl carnitine profile on filter paper. Consult pediatricmetabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:May have hypotonia, hypoglycemia, hypertrophic cardiomyopathy,diarrhea, vomiting, ketosis and/or seizures. Infants are at risk formetabolic decompensation/crisis.Treatment:Carnitine supplementation. May be prescribed fat controlled dietwith MCT as major fat source. Avoid fasting.
Methylmalonic Acidemia (MUT & Cbl A, B)Methylmalonic academia is a disorder of isoleucine (ILE), methionine (MET), threonine (THR),valine (VAL), and odd chain fatty acid metabolism caused by deficient methyl malonyl CoAmutase, deficient Vitamin B12 (cobalamin) or defects in absorption, transport or processing ofcobalamin. Toxic organic acid metabolites accumulate when the affected infant is ingesting anormal diet or is under catabolic stress.Inheritance:Autosomal recessiveEstimated Incidence:Vitamin B 12 non-responsive 1:48,0001 out of every 50,000 to 100,000Abnormal Screen Result:Elevated C3 (propionyl carnitine)Elevated C3/C2Elevated C3/C16Method of Notification:All results where the C3 is greater than 10 μM and the C3/C2and/or C3/C16 is elevated are called to provider of record. Allresults where the C3 is greater than 15 μM are called to theprovider of record, regardless of the ratio levels. Any otherabnormal C3 results are mailed to the provider of record.Next Steps if Abnormal:Potential medical emergency when the C3 is greater than 10μM and the C3/C2 and/or C3/C16 is elevated or when the C3 isgreater than 15 μM regardless of the ratio levels. See infant assoon as possible to ascertain health status. Consult pediatricmetabolic specialist for further instructions.Repeat acyl carnitine profile as soon as possible on filter paper.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screening program.Neonatal Presentation:Poor feeding, vomiting, tachypnea, lethargy, abnormal muscletone, involuntary movements, seizures, comaTreatment:Trial of hydroxy cobalamin as soon as suspected. Protein restricteddiet. Use of metabolic formula without ILE, MET, THR, VAL.Carnitine supplementation.Special ConsiderationsFasting/infection/intercurrent illness—Parents must clearly understand that minor illnesses canprecipitate metabolic decompensation in an infant/child with an organic acid disorder and shouldseek medical attention with any concern. Urinary ketones may be monitored as a precautionduring illness. Ketonuria can be an early sign of metabolic decompensation and frequentlyprecedes clinical signs.
Methylmalonic Acidemia with Homocystinuria (CBL C, D, F)Methylmalonic acidemia is an inherited condition in which the body is unable to process certainfats and proteins. It is considered an organic acid condition because it can lead to a harmfulexcess of certain toxins and organic acids.Methylmalonic acidemia with homocystinuria (Cbl C, D, F) is one rare type of methylmalonicacidemia. Individuals with this form of methylmalonic acidemia have trouble producing certaincobalamin enzymes, which causes harmful levels of homocysteine and methylmalonic acid tobuild up in their bodies.Abnormal Screen Result:Elevated C3 (propionyl carnitine)Decreased MET (Methionine)Elevated C3/C2The exact number of people affected by this specific disorder is currently unknown. Signs ofmethylmalonic acidemia with homocystinuria (Cbl C, D, F) could begin anywhere between thefirst few days of life and 14 years of age. Children with Cbl C usually show symptoms betweenthe first few days and the first month of life. Children with Cbl D deficiency do not show signsuntil later in childhood.Infants with Cbl C, D, or F, may exhibit signs including delayed growth, small head size, skinrash, vomiting, poor appetite, diarrhea, fever, sleeping longer or more often, tiredness or weakmuscle tone (called hypotonia).Many of these signs may occur when your baby eats foods that their body cannot break down.They can be triggered by long periods of time without eating, illnesses, and infections.Dietary Treatment:A restricted diet to avoid proteins that the body cannot break down. Special formulas or foodsmay be recommended; these formulas will likely need to continue through adulthood.Eating often will also help prevent many of the signs mentioned above. Illnesses and infectionscan also trigger these signs.Supplements and Medications:Natural supplements can also help treat Cbl C, D, F. Vitamin B-12 can help reduce the signs andsymptoms of the condition in some children.
Isobutyryl Glycinuria (IBG)Iso-Butyryl-Glycinuria is a disorder of valine metabolism. Infants with this disorder may havecardiomyopathy and anemia.Inheritance:Presumed autosomal recessiveEstimated Incidence:Unknown; thought to be very rareAbnormal Screen Result:Elevated C4 (butyryl carnitine)Method of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat acyl carnitine profile on filter paper. Consult pediatricmetabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:NoneTreatment:Carnitine supplementation. Moderate protein restriction andavoidance of fasting may be helpful.
Isovaleric Acidemia (IVA)Isovaleric acidemia is a disorder of leucine (LEU) metabolism caused by deficiency of theenzyme isovaleryl CoA dehydrogenase. This enzyme deficiency leads to the accumulation oftoxic organic acid metabolites when the affected infant is ingesting a normal diet or is undercatabolic stress. A chronic, intermittent form of IVA can present later in infancy or childhoodwith episodes of metabolic acidosis, usually associated with an intercurrent illness or increasedprotein intake.Inheritance:Autosomal recessiveEstimated Incidence:1:230,000Abnormal Screen Result:Elevated C5 (isovaleryl carnitine)Method of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:Potential medical emergency! See infant as soon as possible toascertain health status and repeat acyl carnitine profile onfilter paper. Consult pediatric metabolic specialist for furtherinstructions.Initiate treatment and diagnostic evaluation as recommendedby specialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:Poor feeding, vomiting, tachypnea, lethargy, abnormal muscletone, involuntary movements, seizures, comaTreatment:Protein restricted diet. Use of metabolic formula without LEU.Glycine (GLY) supplementation. Carnitine supplementation.Special ConsiderationsFasting/infection/intercurrent illness - Parents must clearly understand that minor illnesses canprecipitate metabolic decompensation in an infant/child with an organic acid disorder and shouldseek medical attention with any concern. Urinary ketones may be monitored as a precautionduring illness. Ketonuria can be an early sign of metabolic decompensation and frequentlyprecedes clinical signs.
2-Methylbutyrylglycinuria (2MBG)2-Methylbutyryl CoA dehydrogenase deficiency is a disorder of isoleucine (ILE) metabolism.Infants with this disorder may be asymptomatic or may have an episode of metabolicdecompensation with subsequent neurological deficits.Inheritance:Presumed autosomal recessiveEstimated Incidence:Unknown; thought to be very rare outside of persons of HmongancestryAbnormal Screen Result:Elevated C5 (isovaleryl carnitine)Method of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat acyl carnitine profile on filter paper. Consult pediatricmetabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:Hypotonia, lethargy, apnea, hypoglycemiaTreatment:Carnitine supplementation. Moderate protein restriction. Avoidfasting.
3-Methylcrotonyl CoA Carboxylase Deficiency (3-MCC)3-Methylcrotonyl CoA carboxylase deficiency (3-MCC) is a disorder of leucine (LEU)metabolism. Infants may have a Reye-like illness with hypoketotic hypoglycemia, hypotonia,hepatic encephalopathy, and metabolic acidosis. Symptomatic infants may have a “cat’s urine”odor.Inheritance:Autosomal recessiveEstimated Incidence:1:50,000Abnormal Screen Result:Elevated C4DC (methyl malonyl carnitine) C5OH (3-OHisovaleryl carnitine)Method of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat acyl carnitine profile on filter paper. Consult pediatricmetabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:Usually none. May present with seizures.Treatment:Carnitine supplementation. Moderate protein and LEU restriction.Glycine supplementation. Avoid fasting. NOTE: Biotin is noteffective in isolated 3-MCC.Special Considerations:Maternal 3-MCC: In some newborns, the elevated C4DC C5OH is reflective of maternal3-MCC levels.
Beta Ketothiolase DeficiencyBeta Ketothiolase Deficiency (βKT) is a disorder of isoleucine (ILE) metabolism and ofketolysis. Infants with this disorder are at risk for episodes of severe ketoacidosis withsubsequent neurological deficits. This disorder is sometimes called 2-methyl 3-OH butyricaciduria.Inheritance:Autosomal recessiveEstimated Incidence:UnknownAbnormal Screen Result:Elevated C4DC (methyl malonyl carnitine) C5OH (3-OHisovaleryl carnitine)Method of Notification:All abnormal results are called to provider of recordNext Steps if Abnormal:See infant as soon as possible to ascertain health status andrepeat acyl carnitine profile on filter paper. Consult pediatricmetabolic specialist for further instructions.Initiate treatment and diagnostic evaluation as recommended byspecialist. Report all findings to state newborn screeningprogram.Neonatal Presentation:Poor feeding, vomiting, tachypnea, lethargyTreatment:Carnitine supplementation. Protein restricted/fat controlled diet.Avoid fasting. May require long term bicarbonate.Special ConsiderationsFasting/infection/intercurrent illness - Parents must clearly understand that minor illnesses canprecipitate metabolic decompensation in an infant/child with an organic acid disorder and shouldseek medical attention with any concern.Urinary ketones should be monitored at home. Ketonuria can be an early sign of metabolicdecompensation and frequently precedes clinical signs.
2-Methyl 3-OH Butyric Aciduria (2M3HBA)2-methyl 3-OH butyric aciduria is a disorder of isoleucine (ILE) metabolism and of 2-methylbranched chain fatty acids. Infants with this disorder are at risk for episodes of metabolicde
metabolic specialist. Further diagnostic evaluation may be necessary to rule out BH 4 defects. The metabolic specialist will initiate PHE restricted diet in coordination with a metabolic dietitian. Report all findings to stat
NMSP to increase screening from 7 to 28 metabolic disorders, with the addition of 9 fatty acid oxidation disorders (FAODs) and 12 more amino acid disorders. 2.3 Disorders in the Newborn Metabolic Screening Programme The 28 metabolic disorders currently screened for by the NMSP are: Amino acid disorders (14 disorders, including PKU and MSUD)
Mar 04, 2014 · 2. Substance-induced disorders -- intoxication, withdrawal, and other substance/medication-induced mental disorders (psychotic disorders, bipolar and related disorders, depressive disorders, anxiety disorders, obsessive-compulsive and related disorders, sleep disorders, sexual dysfunctions,
A third type of stroke, known as metabolic stroke, begins with metabolic dys-function and leads to a rapid onset of lasting focal brain lesions in the absence of large vessel rupture or occlu-sion [3-5]. The mechanism by which global metabolic dysfunction leads to focal brain injury in metabolic stroke is not well understood. Pure metabolic .
A-Disorders of nitrogen-containing compounds: 6-6-Disorders of glutathione metabolism 11-Disorders of phenylalanine 12-Disorders of tyrosine metabolism 13-Disorders of sulfur amino acid and sulfide metab. 14-Disorders of branched-chain amino acid metab. 15-Disorders of lysine metabolism 16-Disorders of proline and ornithine metabolism 18 .
1. Neurodevelopmental Disorders 2. Schizophrenia Spectrum and other Psychotic Disorders 3. Bipolar and Related Disorders 4. Depressive Disorders 5. Anxiety Disorders 6. Obsessive-Compulsive and Related Disorders 7. Trauma-and Stressor-Related Disorders 8. Dissociative Disorders 9. Somatic Symptoms and Rela
6. Detection of Eating Disorders 63 7. Diagnosis of Eating Disorders 73 8. Interventions at the Different Levels of Care in the Management of Eating Disorders 81 9. Treatment of Eating Disorders 91 10. Assessment of Eating Disorders 179 11. Prognosis of Eating Disorders 191 12. Legal Aspects Concerning Individuals with Eating Disorders in Spain 195
relation between nut consumption and metabolic syndrome (MetS). Metabolic Syndrome is a group of cardio-metabolic risk factors, which comprise of type 2 diabetes, high fasting plasma glucose, hyperglycemia, hyper-triglycerides, low HDL cholesterol and abdominal obesity [21]. Metabolic syndrome raises the risk of diabetes by 5 times and that of
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