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Phenylketonurias MeSH Descriptor Data 2025


MeSH Heading
Phenylketonurias
Tree 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
Unique ID
D010661
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D010661
Scope Note
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).
Entry Version
PKU
Entry Term(s)
BH4 Deficiency
Biopterin Deficiency
DHPR Deficiency
Deficiency Disease, Dihydropteridine Reductase
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency Disease, Phenylalanine Hydroxylase, Severe
Dihydropteridine Reductase Deficiency
Dihydropteridine Reductase Deficiency Disease
Folling Disease
Folling's Disease
HPABH4C
Hyperphenylalaninaemia
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
Non-Phenylketonuric Hyperphenylalaninemia
Oligophrenia Phenylpyruvica
PAH Deficiency
PKU, Atypical
Phenylalanine Hydroxylase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylketonuria
Phenylketonuria I
Phenylketonuria II
Phenylketonuria Type 2
Phenylketonuria, Atypical
Phenylketonuria, Classical
QDPR Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Tetrahydrobiopterin Deficiency
NLM Classification #
QU 265.5.A5
See Also
Dihydropteridine Reductase
Phenylalanine Hydroxylase
Public MeSH Note
2000; see PHENYLKETONURIA 1974-1999
History Note
2000(1974)
Date Established
2000/01/01
Date of Entry
1999/01/01
Revision Date
2023/02/26
Phenylketonurias Preferred
Phenylketonuria II Narrower
Hyperphenylalaninemia, Non-Phenylketonuric Related
Phenylketonuria I Narrower
Hyperphenylalaninaemia Narrower
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