En grupp autosomalt recessiva sjukdomar, vars kännetecken är brist på leverenzymet fenylalaninhydroxylas, eller mindre ofta nedsatt verkan av dihydropteridinreduktas (atypisk fenylketonuri). Klassisk fenylketonuri orskas av svår brist på fenylalaninhydroxylas och yttrar sig i tidig barndom som utvecklingsstörningar, krampanfall, svag hudpigmentering, eksem och demyelinering i det centrala nervsystemet.
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).
Föllings sjukdom — PKU — Fenylketonuri type 2 — Atypisk PKU
Phenylketonuria — Phenylketonuria II — Dihydropteridine Reductase Deficiency — Deficiency, Dihydropteridine Reductase — Quinoid Dihydropteridine Reductase Deficiency — DHPR Deficiency — Deficiency, DHPR — PKU, Atypical — Atypical PKU — HPABH4C — Phenylketonuria, Atypical — Atypical Phenylketonuria — Hyperphenylalaninemia, BH4-Deficient, C — Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency — Dihydropteridine Reductase Deficiency Disease — Deficiency Disease, Dihydropteridine Reductase — Phenylketonuria Type 2 — QDPR Deficiency — Deficiency, QDPR — Phenylketonuria I — Phenylalanine Hydroxylase Deficiency Disease, Severe — Folling Disease — Disease, Folling — Folling's Disease — Disease, Folling's — Phenylalanine Hydroxylase Deficiency — Deficiency, Phenylalanine Hydroxylase — Phenylketonuria, Classical — Classical Phenylketonuria — PAH Deficiency — Deficiency, PAH — Phenylalanine Hydroxylase Deficiency Disease — Deficiency Disease, Phenylalanine Hydroxylase — Deficiency Disease, Phenylalanine Hydroxylase, Severe — Oligophrenia Phenylpyruvica — Hyperphenylalaninaemia — Hyperphenylalaninemia, Non-Phenylketonuric — Hyperphenylalaninemia, Non Phenylketonuric — Tetrahydrobiopterin Deficiency — Deficiency, Tetrahydrobiopterin — Biopterin Deficiency — Biopterin Deficiencies — Deficiency, Biopterin — Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism — Non-Phenylketonuric Hyperphenylalaninemia — Non Phenylketonuric Hyperphenylalaninemia — Non-Phenylketonuric Hyperphenylalaninemias — BH4 Deficiency — Deficiency, BH4