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Article

A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.

Brain & development - 1 Sept 2014

Kim Se Hee, Lee Jin Sook, Lim Byung Chan, Kim Ki Joong, Hwang Yong Seoung, Park June Dong, Cheon Jung-Eun, Kim In-One, Kim Boong-Nyun, Chae Jong-Hee

Abstract excerpt

Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided...

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Identifiers

PMID: 24199608
DOI: 10.1016/j.braindev.2013.09.009

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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A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.PMID 24199608Read ↗

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