Phenylketonurias
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).
Year introduced: 2000(1974)
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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
MeSH Unique ID: D010661
Entry Terms:
- Phenylketonuria
- Phenylketonuria II
- Dihydropteridine Reductase Deficiency
- Deficiency, Dihydropteridine Reductase
- Quinoid Dihydropteridine Reductase Deficiency
- DHPR Deficiency
- Deficiency, DHPR
- PKU, Atypical
- Atypical PKU
- HPABH4C
- QDPR Deficiency
- Deficiency, QDPR
- Hyperphenylalaninemia, BH4-Deficient, C
- Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
- Dihydropteridine Reductase Deficiency Disease
- Deficiency Disease, Dihydropteridine Reductase
- Phenylketonuria Type 2
- Phenylketonuria, Atypical
- Atypical Phenylketonuria
- Hyperphenylalaninemia, Non-Phenylketonuric
- Hyperphenylalaninemia, Non Phenylketonuric
- Non-Phenylketonuric Hyperphenylalaninemia
- Non Phenylketonuric Hyperphenylalaninemia
- Non-Phenylketonuric Hyperphenylalaninemias
- Tetrahydrobiopterin Deficiency
- Deficiency, Tetrahydrobiopterin
- BH4 Deficiency
- Deficiency, BH4
- Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
- Biopterin Deficiency
- Biopterin Deficiencies
- Deficiency, Biopterin
- Phenylketonuria I
- Phenylalanine Hydroxylase Deficiency Disease, Severe
- Folling Disease
- Disease, Folling
- Folling's Disease
- Disease, Folling's
- Phenylalanine Hydroxylase Deficiency
- Deficiency, Phenylalanine Hydroxylase
- Oligophrenia Phenylpyruvica
- PAH Deficiency
- Deficiency, PAH
- Phenylalanine Hydroxylase Deficiency Disease
- Deficiency Disease, Phenylalanine Hydroxylase
- Deficiency Disease, Phenylalanine Hydroxylase, Severe
- Phenylketonuria, Classical
- Classical Phenylketonuria
- Hyperphenylalaninaemia
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