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CARBAMYL-PHOSPHATE SYNTHETASE I DEFICIENCY DISEASE
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DeCS
Descriptor
English
:
Carbamoyl-Phosphate Synthase I Deficiency Disease
Descriptor
Spanish
:
Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I
Descriptor
Portuguese
:
Doença da Deficiência da Carbamoil-Fosfato Sintase I
Synonyms
English
:
Carbamyl-Phosphate Synthetase I Deficiency Disease
Tree Number:
C10.228.140.163.100.162
C16.320.565.100.275
C16.320.565.189.162
C18.452.132.100.162
C18.452.648.100.275
C18.452.648.189.162
C18.452.660.097
Definition
English
:
A
urea
cycle disorder manifesting in infancy as
lethargy
, emesis,
seizures
, alterations of muscle tone, abnormal
eye movements
, and an elevation of
serum
ammonia
. The disorder is caused by a reduction in the activity of hepatic mitochondrial
CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)
. (Menkes, Textbook of
Child
Neurology
, 5th ed, pp50-1)
Indexing Annotation
English
:
consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic; DF: CP SYNTHASE I DEFIC DIS
See Related
English
:
Carbamoyl-Phosphate Synthase (Ammonia)
History Note
English
:
2000
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:
34229
Unique Identifier:
D020165
Occurrence in VHL
:
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