Search on: CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE 
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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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