A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.

Ihara, K

A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia. [electronic resource] - Journal of inherited metabolic disease 2005 - 681-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0141-8955

10.1007/s10545-005-0084-z doi


Adolescent
Ammonia--metabolism
Carbamoyl-Phosphate Synthase (Ammonia)--biosynthesis
DNA, Complementary--metabolism
Diagnosis, Differential
Exons
Female
Glucose--metabolism
Glutamate Dehydrogenase--genetics
Humans
Hyperammonemia--diagnosis
Hyperinsulinism--diagnosis
Liver--enzymology
Liver Extracts--metabolism
Metabolism, Inborn Errors--diagnosis
Mutation
Sequence Analysis, DNA
Syndrome
Time Factors