Phenylketonurias [fenylketonurie]
- Terms
-
deficit dihydropteridin reduktázy
deficit fenylalaninhydroxylázy
deficit tetrahydrobiopterinu
fenylketonurie, typ I
fenylketonurie, typ II
Föllingova nemoc
hyperfenylalaninemie
hyperfenylalaninémie
nedostatek dihydropteridin reduktázy
nedostatek fenylalaninhydroxylázy
nedostatek tetrahydrobiopterinu
non-fenylketonurická hyperfenylalaninemie
non-fenylketonurická hyperfenylalaninémie
oligophrenia fenylpyruvica
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BH4 Deficiency
Biopterin Deficiency
Deficiency Disease, Dihydropteridine Reductase
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency Disease, Phenylalanine Hydroxylase, Severe
DHPR Deficiency
Dihydropteridine Reductase Deficiency
Dihydropteridine Reductase Deficiency Disease
Folling Disease
Folling's Disease
HPABH4C
Hyperphenylalaninaemia
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
Non-Phenylketonuric Hyperphenylalaninemia
Oligophrenia Phenylpyruvica
PAH Deficiency
Phenylalanine Hydroxylase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylketonuria
Phenylketonuria I
Phenylketonuria II
Phenylketonuria Type 2
Phenylketonuria, Atypical
Phenylketonuria, Classical
PKU, Atypical
QDPR Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Tetrahydrobiopterin Deficiency
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).
- DUI
- D010661 MeSH Browser
- CUI
- M0016567
- History note
- 2000(1974)
- Public note
- 2000; see PHENYLKETONURIA 1974-1999
Allowable subheadings
- BL
- blood 11
- CF
- cerebrospinal fluid
- CI
- chemically induced 2
- CL
- classification 2
- CO
- complications 22
- DI
- diagnosis 87
- DG
- diagnostic imaging 1
- DH
- diet therapy 63
- DT
- drug therapy 11
- EC
- economics 3
- EM
- embryology
- EN
- enzymology 4
- EP
- epidemiology 11
- EH
- ethnology 3
- ET
- etiology 20
- GE
- genetics 41
- HI
- history 5
- IM
- immunology
- ME
- metabolism 17
- MI
- microbiology
- MO
- mortality
- NU
- nursing 4
- PS
- parasitology
- PA
- pathology 9
- PP
- physiopathology 10
- PC
- prevention & control 8
- PX
- psychology 9
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 45
- UR
- urine 5
- VE
- veterinary
- VI
- virology
6-pyruvoyl-tetrahydropterin synthase deficiency Disease MeSH Browser
Hyperphenylalaninemia with primapterinuria Disease MeSH Browser
Hyperphenylalaninemia, BH4-Deficient, B Disease MeSH Browser
Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency Disease MeSH Browser
Hyperphenylalaninemia, Non-Pku Mild Disease MeSH Browser