Hyperammonemia with citrullinemia.
Indian Pediatr
;
2004 Aug; 41(8): 842-4
Article
in English
| IMSEAR
| ID: sea-10813
ABSTRACT
Two cases of hyperammonemia with elevated citrulline are reported, one resulting from a deficiency of pyruvate carboxylase and the other from a partial deficiency of argininosuccinate synthetase. Diagnosis was based on clinical, biochemical and amino acid profiles. The utility of amino acid determinations in hyperammonemia suspected to underlie an inborn error of metabolism is emphasized.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Male
/
Infant, Newborn
/
Adolescent
/
Citrullinemia
/
Hyperammonemia
Language:
English
Journal:
Indian Pediatr
Year:
2004
Type:
Article
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