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

Föllings sjukdom PKU Fenylketonuri type 2 Atypisk PKU

Engelska synonymer

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 Non-Phenylketonuric Hyperphenylalaninemias Non-Phenylketonuric Hyperphenylalaninemia Non Phenylketonuric Hyperphenylalaninemia Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism Tetrahydrobiopterin Deficiency Deficiency, Tetrahydrobiopterin BH4 Deficiency Deficiency, BH4