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CARBAMOYL-PHOSPHATE SYNTHASE 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
Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
CPS 1 Deficiency
Deficiency Disease, Carbamyl Phosphate Synthetase
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Tree Number:
C10.228.140.163.100.937.249
C16.320.565.100.940.249
C16.320.565.189.937.249
C18.452.132.100.937.249
C18.452.648.100.940.249
C18.452.648.189.937.249
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
See Related
English
:
Carbamoyl-Phosphate Synthase (Ammonia)
History Note
English
:
2000
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
34229
Unique Identifier:
D020165
Occurrence in VHL
:
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