Search on: PHENYLKETONURIAS 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Phenylketonurias 
Descriptor Spanish:   Fenilcetonurias 
Descriptor Portuguese:   Fenilcetonúrias 
Synonyms English:   Atypical PKU
Atypical Phenylketonuria
BH4 Deficiency
Classical Phenylketonuria
DHPR Deficiency
Deficiency Disease, Dihydropteridine Reductase
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency Disease, Phenylalanine Hydroxylase, Severe
Deficiency, BH4
Deficiency, DHPR
Deficiency, Dihydropteridine Reductase
Deficiency, PAH
Deficiency, Phenylalanine Hydroxylase
Deficiency, QDPR
Deficiency, Tetrahydrobiopterin
Dihydropteridine Reductase Deficiency
Dihydropteridine Reductase Deficiency Disease
Disease, Folling
Disease, Folling's
Folling Disease
Folling's Disease
HPABH4C
Hyperphenylalaninaemia
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, BH4-Deficient, C
Hyperphenylalaninemia, Non Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
Non Phenylketonuric Hyperphenylalaninemia
Non-Phenylketonuric Hyperphenylalaninemia
Non-Phenylketonuric Hyperphenylalaninemias
Oligophrenia Phenylpyruvica
PAH Deficiency
PKU, Atypical
Phenylalanine Hydroxylase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylketonuria
Phenylketonuria I
Phenylketonuria II
Phenylketonuria Type 2
Phenylketonuria, Atypical
Phenylketonuria, Classical
QDPR Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Tetrahydrobiopterin Deficiency  
Tree Number:   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
Definition English:   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). 
Indexing Annotation English:   GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU
See Related English:   Dihydropteridine Reductase
Phenylalanine Hydroxylase
 
History Note English:   2000(1974) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   11086 
Unique Identifier:   D010661 

Occurrence in VHL:
 

Similar:

 
DeCS