Term
|
Definition
| Homogentisic Acid Oxidase, 'Black Urine Disease', HGA is excreted |
|
|
Term
| Hereditary Tyrosemiemia type 2 |
|
Definition
| Oculocutaneous Tyrosinemia: corneal erosions, thickening of the skin. Tyrosine aminotransferase |
|
|
Term
|
Definition
| galactose-1-phosphate uridyl transferase. Metabolized to galactitol and galactonate. |
|
|
Term
|
Definition
|
|
Term
| Hereditary fructose intolerance |
|
Definition
| poor feeding, failure to thrive, hepatic/renal insufficiency and death. fructose 1,6-bisphosphate aldolase |
|
|
Term
|
Definition
| hepatic fructose 1,6-bisphosphatase. impaired gluconeogenesis, hypoglycemia, severe metabolic acidemia |
|
|
Term
|
Definition
| Lactase-phlorizin hydrolase (LPH) or lactase |
|
|
Term
| Classical phenylketonuria PKU |
|
Definition
| phenylalanine hydroxylase |
|
|
Term
|
Definition
| defects in the synthesis of tetrahydrobiopterin |
|
|
Term
| Hereditary tyrosinemia type 1 |
|
Definition
| most common defect and is caused by fumarylacetoacetate hydrolase deficiency. accumulation of fumarylacetoacetate and maleylacetoacetate is hepatotoxic. NTBC treatment. |
|
|
Term
| Hereditary Tyrosinemia Type 3 |
|
Definition
| reduced 4-hydroxyphenylpyruvate dioxygenase activity. Neurological dysfunction. |
|
|
Term
| Maple Syrup Urine Disease |
|
Definition
| branched-chain alpha-ketoacid dehydrogenase. progressiv neurodegeneration and death. therapy with thiamine |
|
|
Term
|
Definition
| Medium-chain acyl-coenzyme A dehydrogenase: episodic hypoglycemia by fasting. cerebral edema and encephalopathy. |
|
|
Term
|
Definition
| L-3-hydroxyacyl-CoA Dehydrogenase. Fatty acid metabolites |
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|
