Structured Summary
Abstract
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).
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Synonyms
49 entry terms
- Phenylketonuria
- 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 I
- Phenylketonuria II
- Phenylketonuria Type 2
- Phenylketonuria, Atypical
- Phenylketonuria, Classical
- QDPR Deficiency
- Quinoid Dihydropteridine Reductase Deficiency
- Tetrahydrobiopterin Deficiency
- Atypical PKU
- Atypical Phenylketonuria
- Biopterin Deficiencies
- Classical Phenylketonuria
- Deficiency, BH4
- Deficiency, Biopterin
- Deficiency, DHPR
- Deficiency, Dihydropteridine Reductase
- Deficiency, PAH
- Deficiency, Phenylalanine Hydroxylase
- Deficiency, QDPR
- Deficiency, Tetrahydrobiopterin
- Disease, Folling
- Disease, Folling's
- Hyperphenylalaninemia, Non Phenylketonuric
- Non Phenylketonuric Hyperphenylalaninemia
- Non-Phenylketonuric Hyperphenylalaninemias
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2000(1974)
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NLM Classification
QU 265.5.A5
AMA Style
References
- National Library of Medicine. Phenylketonurias. Medical Subject Headings (MeSH). 2026. Unique ID D010661. http://id.nlm.nih.gov/mesh/2026/D010661
- Phenylketonurias. In: Wikipedia. https://en.wikipedia.org/wiki/Phenylketonuria
- Phenylketonurias. In: Wikidata. https://www.wikidata.org/wiki/Q194041