Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations

Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15–20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecu...

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Bibliographic Details
Main Authors: Huy-Hoang Nguyen, Ngoc Khanh Nguyen, Chi Dung Vu, Thi Thu Huong Nguyen, Ngoc-Lan Nguyen
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Pediatrics
Subjects:
ornithine transcarbamylase deficiency (OTCD)
Vietnamese females
heterozygous females
c.365A>T
IVS7+1G>A
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00321/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00321/full

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