For patient information, click here
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
|
---|
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 |
---|
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 |
---|
Lipid storage | |
---|
Other lipid | |
---|
Mineral | |
---|
Fluid, electrolyte and acid-base balance | |
---|
Purine and pyrimidine | |
---|
Porphyrin | |
---|
Bilirubin | |
---|
Glycosaminoglycan | |
---|
Glycoprotein | |
---|
Other | |
---|