Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report

BACKGROUND: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, most of w...

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Detalles Bibliográficos
Autores principales: Liu, Hao, Miao, Jing-kun, Yu, Chao-wen, Wan, Ke-xing, Zhang, Juan, Yuan, Zhao-jian, Yang, Jing, Wang, Dong-juan, Zeng, Yan, Zou, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784346/
https://www.ncbi.nlm.nih.gov/pubmed/31597564
http://dx.doi.org/10.1186/s12887-019-1747-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784346/
https://www.ncbi.nlm.nih.gov/pubmed/31597564
http://dx.doi.org/10.1186/s12887-019-1747-5

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