Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect

Hironori Nagasaka; Haruki Komatsu; Toshihiro Ohura; Tsuyoshi Sogo; Ayano Inui; Tohru Yorifuji; Kei Murayama; Masaki Takayanagi; Hideaki Kikuta; Kunihiko Kobayashi

doi:10.1016/j.jpeds.2004.05.033

Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect

J Pediatr. 2004 Aug;145(2):259-62. doi: 10.1016/j.jpeds.2004.05.033.

Authors

Hironori Nagasaka¹, Haruki Komatsu, Toshihiro Ohura, Tsuyoshi Sogo, Ayano Inui, Tohru Yorifuji, Kei Murayama, Masaki Takayanagi, Hideaki Kikuta, Kunihiko Kobayashi

Affiliation

¹ Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan. [email protected]

PMID: 15289781
DOI: 10.1016/j.jpeds.2004.05.033

Abstract

Nitric oxide (NO) levels in plasma and urine were determined in 5 girls with ornithine transcarbamylase deficiency (OTCD) of late-onset type, who often developed migraine-like headache or vomiting. The patients were found to have low NO synthesis, suggesting that the low NO synthesis contributes to the clinical manifestations of urea cycle defect.

MeSH terms

Child, Preschool
Female
Humans
Infant
Metabolic Diseases / diagnosis
Metabolic Diseases / metabolism*
Nitric Oxide / biosynthesis*
Nitric Oxide / blood
Nitric Oxide / urine
Ornithine Carbamoyltransferase Deficiency Disease / metabolism*
Urea / metabolism*

Substances

Nitric Oxide
Urea