Phenylketonurias (Phenylketonuria)

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1702 relevant articles (21 outcomes, 131 trials/studies) found for this Disease

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).

Also Known As:

Phenylketonuria; Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Hyperphenylalaninaemia; Hyperphenylalaninaemias; Phenylalanine Hydroxylase Deficiency Disease; Deficiency Disease, Dihydropteridine Reductase; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Folling's Disease; Phenylalanine Hydroxylase Deficiency Disease, Severe; Phenylketonuria I; Phenylketonuria II; Phenylketonuria, Atypical; Phenylketonuria, Classical; Atypical Phenylketonuria; Atypical Phenylketonurias; Classical Phenylketonurias; Disease, Folling; Disease, Folling's; Diseases, Folling; Folling Diseases; Hyperphenylalaninemia, Non Phenylketonuric; Hyperphenylalaninemias, Non-Phenylketonuric; IIs, Phenylketonuria; Is, Phenylketonuria; Non-Phenylketonuric Hyperphenylalaninemia; Non-Phenylketonuric Hyperphenylalaninemias; Phenylketonuria IIs; Phenylketonuria Is; Phenylketonurias, Atypical; Phenylketonurias, Classical; Dihydropteridine Reductase Deficiency Disease; Hyperphenylalaninemia, Non-Phenylketonuric