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).

Descriptor ID	D010661
MeSH Number(s)	C10.228.140.163.100.687 C16.320.565.100.766 C16.320.565.189.687 C18.452.132.100.687 C18.452.648.100.766 C18.452.648.189.687
Concept/Terms	Phenylketonurias Phenylketonurias Phenylketonuria Hyperphenylalaninemia, Non-Phenylketonuric Hyperphenylalaninemia, Non-Phenylketonuric Hyperphenylalaninemia, Non Phenylketonuric Hyperphenylalaninemias, Non-Phenylketonuric Non-Phenylketonuric Hyperphenylalaninemia Non-Phenylketonuric Hyperphenylalaninemias Phenylketonuria II Phenylketonuria II Phenylketonuria IIs Phenylketonuria, Atypical Atypical Phenylketonuria Atypical Phenylketonurias Phenylketonurias, Atypical Phenylketonuria Type 2 Phenylketonuria Type 2s Deficiency Disease, Dihydropteridine Reductase Dihydropteridine Reductase Deficiency Disease Hyperphenylalaninaemia Hyperphenylalaninaemia Hyperphenylalaninaemias Phenylketonuria I Phenylketonuria I Phenylketonuria Is Oligophrenia Phenylpyruvica Oligophrenia Phenylpyruvicas Phenylpyruvica, Oligophrenia Phenylpyruvicas, Oligophrenia Phenylalanine Hydroxylase Deficiency Deficiencies, Phenylalanine Hydroxylase Deficiency, Phenylalanine Hydroxylase Hydroxylase Deficiencies, Phenylalanine Hydroxylase Deficiency, Phenylalanine Phenylalanine Hydroxylase Deficiencies Phenylalanine Hydroxylase Deficiency Disease Folling Disease Disease, Folling Diseases, Folling Folling Diseases Phenylketonuria, Classical Classical Phenylketonuria Classical Phenylketonurias Phenylketonurias, Classical Deficiency Disease, Phenylalanine Hydroxylase Deficiency Disease, Phenylalanine Hydroxylase, Severe Folling's Disease Disease, Folling's Phenylalanine Hydroxylase Deficiency Disease, Severe

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