Search
Descriptor English: Phenylketonurias
Descriptor Spanish: Fenilcetonurias
Descriptor fenilcetonurias
Entry term(s) enfermedad por deficiencia de dihidropteridina reductasa
enfermedad por deficiencia de fenilalanina hidroxilasa
hiperfenilalaninemia no fenilcetonúrica
Scope note: Grupo de trastornos autosómicos recesivos que se caracterizan por tener una deficiencia de la enzima hepática FENILALANINA HIDROXILASA o menos frecuentemente por una menor actividad de la DIHIDROPTERIDINA REDUCTASA (es decir, fenilcetonuria atípica). La fenilcetonuria clásica se origina por deficiencia importante de fenilalanina hidroxilasa y se manifiesta en la infancia con retraso del desarrollo, CONVULSIONES, HIPOPIGMENTACIÓN de la piel, ECZEMA y desmielinización en el sistema nervioso central. (Adams et al., Principles of Neurology, 6th ed, p952).
Descriptor Portuguese: Fenilcetonúrias
Descriptor French: Phénylcétonuries
Entry term(s): 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(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D010661
Scope note: 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).
Annotation: GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2000; see PHENYLKETONURIA 1974-1999
History Note: 2000(1974)
Entry Version: PKU
Related: Dihydropteridine Reductase MeSH
Phenylalanine Hydroxylase MeSH
DeCS ID: 11086
Unique ID: D010661
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2000/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Phenylketonurias - Preferred
Concept UI M0016567
Scope note 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).
Preferred term Phenylketonurias
Entry term(s) Phenylketonuria
Hyperphenylalaninemia, Non-Phenylketonuric - Related but not broader or narrower
Concept UI M0335853
Preferred term Hyperphenylalaninemia, Non-Phenylketonuric
Entry term(s) BH4 Deficiency
Deficiency, BH4
Deficiency, Tetrahydrobiopterin
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism
Hyperphenylalaninemia, Non Phenylketonuric
Non Phenylketonuric Hyperphenylalaninemia
Non-Phenylketonuric Hyperphenylalaninemia
Non-Phenylketonuric Hyperphenylalaninemias
Tetrahydrobiopterin Deficiency
Phenylketonuria II - Narrower
Concept UI M0335852
Preferred term Phenylketonuria II
Entry term(s) Atypical PKU
Atypical Phenylketonuria
DHPR Deficiency
Deficiency Disease, Dihydropteridine Reductase
Deficiency, DHPR
Deficiency, Dihydropteridine Reductase
Deficiency, QDPR
Dihydropteridine Reductase Deficiency
Dihydropteridine Reductase Deficiency Disease
HPABH4C
Hyperphenylalaninemia, BH4-Deficient, C
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency
PKU, Atypical
Phenylketonuria Type 2
Phenylketonuria, Atypical
QDPR Deficiency
Quinoid Dihydropteridine Reductase Deficiency
Hyperphenylalaninaemia - Narrower
Concept UI M0335856
Preferred term Hyperphenylalaninaemia
Phenylketonuria I - Narrower
Concept UI M0335854
Preferred term Phenylketonuria I
Entry term(s) Classical Phenylketonuria
Deficiency Disease, Phenylalanine Hydroxylase
Deficiency Disease, Phenylalanine Hydroxylase, Severe
Deficiency, PAH
Deficiency, Phenylalanine Hydroxylase
Disease, Folling
Disease, Folling's
Folling Disease
Folling's Disease
Oligophrenia Phenylpyruvica
PAH Deficiency
Phenylalanine Hydroxylase Deficiency
Phenylalanine Hydroxylase Deficiency Disease
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylketonuria, Classical



We want your feedback on the new DeCS / MeSH website

We invite you to complete a survey that will take no more than 3 minutes.


Go to survey