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Article

Early intervention for late-onset ornithine transcarbamylase deficiency.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2015

Fujisawa Daisuke, Mitsubuchi Hiroshi, Matsumoto Shirou, Iwai Masanori, Nakamura Kimitoshi, Hoshide Ryuji, Harada Nawomi, Yoshino Makoto, Endo Fumio

Abstract excerpt

We report the case of a family with late-onset ornithine transcarbamylase deficiency (OTCD). Several family members had died from OTCD, and the c.221G>A, p.Lys221Lys mutation was detected at the 3' end of exon 6 of OTC in the X-chromosome of some members. We provided genetic counseling on pregnancy, delivery, and neonate management to a 4th-generation female carrier and decided on metabolic management of her...

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Source

Identifiers

PMID: 25711267
DOI: 10.1111/ped.12457

Genes

OTC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Early intervention for late-onset ornithine transcarbamylase deficiency.PMID 25711267Read ↗

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