Phenylketonurias D010661

Description

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).   MeSH

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Phase 3 Indicated Drugs (2)

Phase 2 Indicated Drugs (1)

Phase 1 Indicated Drugs (5)

Other Experimental Indicated Drugs (6)


Organization Involved with Phase 3 Indications (2)

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UMLS Data


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