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 Phenylketonuria II Phenylketonuria II Phenylketonuria IIs DHPR Deficiency DHPR Deficiencies Deficiencies, DHPR Deficiency, DHPR Dihydropteridine Reductase Deficiency Disease HPABH4C Hyperphenylalaninemia, Bh4-Deficient, C Dihydropteridine Reductase Deficiency Deficiencies, Dihydropteridine Reductase Deficiency, Dihydropteridine Reductase Dihydropteridine Reductase Deficiencies Reductase Deficiencies, Dihydropteridine Reductase Deficiency, Dihydropteridine Phenylketonuria Type 2 Phenylketonuria Type 2s Phenylketonuria, Atypical Atypical Phenylketonuria Atypical Phenylketonurias Phenylketonurias, Atypical PKU, Atypical Atypical PKU Atypical PKUs PKUs, Atypical QDPR Deficiency Deficiencies, QDPR Deficiency, QDPR QDPR Deficiencies Quinoid Dihydropteridine Reductase Deficiency Deficiency Disease, Dihydropteridine Reductase Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Dhpr Deficiency Phenylketonuria I Phenylketonuria I Phenylketonuria Is Deficiency Disease, Phenylalanine Hydroxylase, Severe Folling Disease Disease, Folling Folling's Disease Disease, Folling's Phenylketonuria, Classical Classical Phenylketonuria Classical Phenylketonurias Phenylketonurias, Classical PAH Deficiency Deficiencies, PAH Deficiency, PAH PAH Deficiencies Phenylalanine Hydroxylase Deficiency Deficiencies, Phenylalanine Hydroxylase Deficiency, Phenylalanine Hydroxylase Hydroxylase Deficiencies, Phenylalanine Hydroxylase Deficiency, Phenylalanine Phenylalanine Hydroxylase Deficiencies Phenylalanine Hydroxylase Deficiency Disease Phenylalanine Hydroxylase Deficiency Disease, Severe Deficiency Disease, Phenylalanine Hydroxylase Oligophrenia Phenylpyruvica Oligophrenia Phenylpyruvicas Phenylpyruvica, Oligophrenia Phenylpyruvicas, Oligophrenia Hyperphenylalaninaemia Hyperphenylalaninaemia Hyperphenylalaninaemias Hyperphenylalaninemia, Non-Phenylketonuric Hyperphenylalaninemia, Non-Phenylketonuric Hyperphenylalaninemia, Non Phenylketonuric Hyperphenylalaninemias, Non-Phenylketonuric Non-Phenylketonuric Hyperphenylalaninemia Non-Phenylketonuric Hyperphenylalaninemias

Below are MeSH descriptors whose meaning is more general than "Phenylketonurias".

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Below are MeSH descriptors whose meaning is more specific than "Phenylketonurias".