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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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