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enzyme deficiency

Used for:

cystathionase deficiency

Used for:

cystathioninuria

Used for:

homoserine deaminase deficiency

Used for:

mucopolysaccharidosis type VII

Used for:

N acetyl glutamate synthethase deficiency

Broader Terms:

disease /disorder

Narrower Terms:

argininemia

Narrower Terms:

arginosuccinate lyase deficiency

Narrower Terms:

arginosuccinate synthetase deficiency

Narrower Terms:

carbamoyl phosphate synthetase deficiency

Narrower Terms:

congenital sucrose isomaltose malabsorption

Narrower Terms:

Fabry's disease

Narrower Terms:

familial hyperlipoproteinemia type I

Narrower Terms:

fucosidosis

Narrower Terms:

galactosemia

Narrower Terms:

gangliosidosis GM1

Narrower Terms:

Gaucher's disease

Narrower Terms:

glucose 6 phosphate dehydrogenase deficiency

Narrower Terms:

glycogen storage disease

Narrower Terms:

hereditary angioneurotic edema

Narrower Terms:

hereditary fructose intolerance

Narrower Terms:

homocystinuria

Narrower Terms:

isovaleric acidemia

Narrower Terms:

ketotic hyperglycinemia

Narrower Terms:

Krabbe's disease

Narrower Terms:

lecithin cholesterol acyltransferase deficiency

Narrower Terms:

Lesch Nyhan syndrome

Narrower Terms:

mannosidosis

Narrower Terms:

metachromatic leukodystrophy

Narrower Terms:

methylmalonic aciduria

Narrower Terms:

mucopolysaccharidosis type I

Narrower Terms:

mucopolysaccharidosis type VI

Narrower Terms:

Niemann Pick disease

Narrower Terms:

ornithine carbamoyl phosphate deficiency

Narrower Terms:

ornithinemia

Narrower Terms:

orotic aciduria

Narrower Terms:

phosphoglycerate kinase deficiency

Narrower Terms:

pyruvate kinase deficiency

Narrower Terms:

Sandhoff disease

Narrower Terms:

Tay Sachs disease

Scope Note:

abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities.

Term Number:

4001-0049

Send your comments to: Melody Lowe