medical & biological sciences

Inborn Errors of Metabolism

An example of a biochemical derangement that results in phenylketonuria.

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Inborn Errors of Metabolism

Inborn Errors of Metabolism

2-Hydroxyglutaric Aciduria

Alkaptonuria

Alpha-Mannosidosis

Arginine:Glycine Amidinotransferase Deficiency

Argininosuccinic Aciduria

Beta-Ketothiolase

Beta-Mannosidosis

Biotinidase Deficiency

Danon Disease

Dihydropyrimidine Dehydrogenase Deficiency

Fabry Disease

Farber Lipogranulomatosis

Fatty Acid Hydroxylase-Associated Neurodegeneration

Fucosidosis

Galactosemia Type 1 (Classic Type)

Glutaric Acidemia Type 1

Glutaric Acidemia Type 2

Glutathione Synthetase Deficiency

Glycine Encephalopathy

GM 1 Gangliosidosis

Guanidinoacetate Methyltransferase Deficiency

Hartnup Disease

Homocystinuria

Lesch-Nyhan Syndrome

Maple Syrup Urine Disease

Methylmalonic Acidemia

Mucopolysaccharidoses

N-Acetylglutamate Synthase Deficiency (aka Hyperammonemia, Type 3)

Neuronal Ceroid Lipofuscinoses (aka Batten disease)

Niemann-Pick Disease, Type C (C1 & C2)

Niemann-Pick Disease, Types A & B

Ornithine Transcarbamylase Deficiency

Phenylketonuria

Pyruvate Dehydrogenase Deficiency

Sandhoff Disease

Sialidosis

Tay-Sachs (aka Sphingolipidosis, Hexosaminidase A deficiency)

Tyrosinemia Type 1 (Tyrosinosis)

X-Linked Creatine Deficiency

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