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DIHYDROPTERIDINE REDUCTASE DEFICIENCY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Phenylketonurias
Descriptor
Spanish
:
Fenilcetonurias
Descriptor
Portuguese
:
Fenilcetonúrias
Synonyms
English
:
Dihydropteridine Reductase Deficiency Disease
Hyperphenylalaninemia, Non-Phenylketonuric
Phenylalanine Hydroxylase Deficiency Disease
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
:
Phenylalanine Hydroxylase
History Note
English
:
2000(1974)
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
11086
Unique Identifier:
D010661
Occurrence in VHL
:
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