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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Ultrasound
Treatment
Medical Therapy
Case Studies
Case #1
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| Amino acid | Aromatic ( Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain ( Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport ( Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur ( Homocystinuria, Cystathioninuria) - Urea cycle disorder ( N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia |
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| Carbohydrate | Lactose intolerance - Glycogen storage disease ( type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism ( Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism ( Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption ( Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA) -
Pentosuria - Renal glycosuria |
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| Lipid storage | |
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| Other lipid | |
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| Mineral | |
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Fluid, electrolyte
and acid-base balance | |
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| Purine and pyrimidine | |
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| Porphyrin | |
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| Bilirubin | |
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| Glycosaminoglycan | |
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| Glycoprotein | |
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| Other | |
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