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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
Related Tutorials
Genetic Myopathies (eg, Muscular Dystrophies)
Phenylalanine & Tyrosine Metabolic Disorders
Purine Catabolism & Related Disorders
