Term
| Metabolic conditions that present as chronic encephalopathy |
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Definition
Homocysteinuria, PKU
Slowly progressive |
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Term
| Metabolic conditions that present as fasting hypoglycemia |
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Definition
| Fatty acid oxidation disorders, GSD, mitochondrial disorders |
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Term
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Definition
| Plasma amino and urine organic acids, metabolic acidosis with ketones, increased anion gap |
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Term
| Diagnosis of OTC deficiency |
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Definition
| Hyperammonemia, milkd metabolic acidosis, respiratory alkalosis |
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Term
| Diagnosis of organic acid diseases |
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Definition
| Metabolic acidosis with ketones, plasma ammonium, abnormal urine organic acids, increased anion gap |
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Term
| Diagnosi of galactosemia, fructose intolerance |
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Definition
| Newborn screening, urine organic acids, elevated liver enzymes |
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Term
| Presentation of fatty acid oxidation |
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Definition
| Hypoketotic hypoglycemia, hypotonia, cardiomyopathy, SIDS |
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Term
| Presentation of glycogen storage disease |
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Definition
| Hepatomegaly, hypoglycemia, lactic acidosis, failure to thrive |
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Term
| Presentation of Mitochondrial disorders |
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Definition
| Lactic acidosis, seizures, cardiomyopathy, hypotonia, occasional hypoglycemia |
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Term
| Lysosomal storage diseases |
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Definition
| Mucopolysaccharidoses, Gaucher disease, Niemann-Pick, Tay-Sachs, Fabry |
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Term
| Peroxisomal storage diseases |
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Definition
| Zellweger, X-linked adrenoleukodystrophy, Mevalonate kinase, rhizomelic chondrodysplasia punctata |
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Term
| Intracellular processing defects |
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Definition
| Menkes, Wilsons, Hemochromatosis, alpha-1-antitrypsin, congenital glycosylation |
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Term
| Inborn errors of cholesterol synthesis |
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Definition
| Smith-Lemli-Opitz, hypercholesterolemia, Tangiers |
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Term
| Maple syrup urine disease |
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Definition
| CNS disease, poor feeding, loss of reflexes, seizures, defect in oxidative decarboxylation of ketoacids. Increased leucine, isoleucine and valine in plasma and urine. Dietary control |
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Term
| Glutaric aciduria and Menkes disease |
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Definition
| Can cause subdural hematomas and retinal hemorrhages can be mistaken for child abuse |
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Term
| Nonketotic hyperglycinemia |
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Definition
AR
Intractable seizure, hiccups in utero, hypotonia, MR. Treat with sodium benzoate |
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Term
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Definition
AR
Encephalopathy, increased levels of isovaleryl co-A, severe metaboic acidosis, ketosis, sweaty feet smell |
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Term
| Long chain (LCHAD) deficiency |
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Definition
| Fasting hypoketotic hypoglycemia, cardiomyopthy, cholestatic liver disease, retinopathy |
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Term
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Definition
| Fasting hypoglycemia, seizures, elevated liver enzymes and CPK, toxic buildup of medium chain fatty acids, newborn screening |
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Term
| Type I GSD: Von Gierke Disease |
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Definition
| defect in glucose-6-phosphatase in liver, kidney, intestine. Fasting hypoglycemia, hepatomegaly, FTT, seizures, normal spleen and heart, hyperuricemia, hypertriglyceridemia, elevated lactate, ESRD, hepatocellular carcinoma |
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Term
| Type III GSD: Debrancher deficiency |
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Definition
AR
hepatomegaly, hypoglycemia, short stature, cardiomyopathy |
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Term
| Type V GSD: McArdle Disease |
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Definition
| Glycogen accumulation, exercise induced muscl cramps, exercise intolerance, myoglobinuria, CPK elevation |
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Term
| Type II GSD: Pompe Disease |
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Definition
| Actually a lysosomal storage disease. Glucosidase deficiency. Cardiomegaly, hypotonia, weakness, elvated CPK, AST and LDH. Treated with enzyme replacement therapy |
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Term
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Definition
| Ashkenazi jews, nonneuropathic form, responds to enzyme replacement, lysosomal glucocerebrosidase deficiency |
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Term
| Type XI GSD: Renal Fanconi Syndrome (Fanconi Bickel Syndrome) |
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Definition
AR
renal tubular dysfunction, accumulation of glycogen in liver and kidney, associated with consanguinity |
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Term
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Definition
AR
Galactose-1-phosphate uridyl transferase deficiency
Must restrict lactose intake
Jaundice, hepatosplenomegaly, hypoglycemia, cataracts, MR, vomiting, seizures, poor weight gain, E. coli sepsis, reducing substances in urine, NBS
Remember lactose=glucose + galactose |
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Term
| Hereditary fructose intolerance |
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Definition
| Accumulation of fructose-1-phosphate, appears like galactosemia with hypoglycemia, liver and kidney failure |
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Term
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Definition
alpha-L-iduronidase
Coarse facial features, mid-face hypoplasia, large tongue, URIs, umbilical hernia, large head, hepatosplenomegaly, cardiac disease
BMT or enzyme replacement therapy |
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Term
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Definition
x-linked
Milder than Hurlers, no corneal clouding, learning disability, hernia, coarse facial features, hepatosplenomegaly, distinctive rash |
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Term
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Definition
cholesterol accumulation
ataxia, hepatosplenomegaly, motor movement problems, narcolepsy, cataplexy |
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Term
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Definition
B-hexosaminidase
Loss of motor skills, macular cherry-red spot, seizures, intention tremor |
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Term
|
Definition
x-linked recessive
episodic pain, hypohydrosis, corneal opacities, renal disease, stroke
Require enzyme replacement therapy |
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Term
| X-linked metabolic disorders |
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Definition
| OTC deficieny, Fabry, Hunters, Menkes, sideroblastic anemia, Lesch-Nyhan |
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Term
| Conditions that present with hypotonia at birth |
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Definition
| Prader-Willi, Trisomy 21, Zellwegers |
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Term
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Definition
Spectrum
Neonatal adrenoleukodystrophyloss of skills, dysmorphic features, hearing loss, vision loss, very long chain fatty acid abnormalities |
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Term
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Definition
x-linkd
Impaired copper uptake
hypothermia, hypotonia, hypoglycemia, kinky hair, seizures, subdural hematomas and retinal hemorrhages |
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Term
| Conditions covered by NBS |
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Definition
| amino acid defects, fatty acid oxidation, galactosemia, hemoglobinopathies, CAH, congenital hypothryoidism, CF |
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