Phenylketonurias

Fenylketonuri

Svensk definition

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.

Engelsk definition

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).

Svenska synonymer

PKU

Engelska synonymer

Phenylketonuria Hyperphenylalaninemia, Non-Phenylketonuric Hyperphenylalaninemia, Non Phenylketonuric Non-Phenylketonuric Hyperphenylalaninemias BH4 Deficiency Deficiency, BH4 Non-Phenylketonuric Hyperphenylalaninemia Non Phenylketonuric Hyperphenylalaninemia Tetrahydrobiopterin Deficiency Deficiency, Tetrahydrobiopterin Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism Phenylketonuria II DHPR Deficiency Deficiency, DHPR Dihydropteridine Reductase Deficiency Deficiency, Dihydropteridine Reductase Dihydropteridine Reductase Deficiency Disease HPABH4C Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency Phenylketonuria, Atypical Atypical Phenylketonuria PKU, Atypical Atypical PKU QDPR Deficiency Deficiency, QDPR Quinoid Dihydropteridine Reductase Deficiency Hyperphenylalaninemia, BH4-Deficient, C Deficiency Disease, Dihydropteridine Reductase Phenylketonuria Type 2 Hyperphenylalaninaemia Phenylketonuria I Deficiency Disease, Phenylalanine Hydroxylase, Severe Folling Disease Disease, Folling Folling's Disease Disease, Folling's Phenylketonuria, Classical Classical Phenylketonuria PAH Deficiency Deficiency, PAH Phenylalanine Hydroxylase Deficiency Deficiency, Phenylalanine Hydroxylase Phenylalanine Hydroxylase Deficiency Disease Phenylalanine Hydroxylase Deficiency Disease, Severe Deficiency Disease, Phenylalanine Hydroxylase Oligophrenia Phenylpyruvica