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

K. Ihara, K. Miyako, M. Ishimura, R. Kuromaru, H. Y. Wang, K. Yasuda, T. Hara

研究成果: Contribution to journalArticle査読

10 被引用数 (Scopus)

抄録

We report a patient who was first diagnosed as having congenital carbamoyl-phosphate synthetase-1 (CPS-1) deficiency on the basis of significantly low CPS-1 activity in the liver at 1 year of age. We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This case demonstrates that low CPS-1 activity in liver, however significant it might be, does not always come from a primary CPS-1 deficiency and that we have to take into consideration the possibility of a secondary CPS-1 deficiency, such as HI/HA syndrome.

本文言語英語
ページ(範囲)681-687
ページ数7
ジャーナルJournal of Inherited Metabolic Disease
28
5
DOI
出版ステータス出版済み - 1 1 2005

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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