HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural history of this disease, we reviewed the biochemi...

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Bibliographic Details
Main Authors: Majid Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair, Zuhair Rahbeeni, Eissa Faqeih, Mohammed Almannai, Ali Alasmari, Mohammed Saleh, Wafaa Eyaid, Ahmed Alfares, Fuad Al Mutairi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
Ketogenesis
hypoglycemia
HMG-CoA lyase
Saudi Arabia
ketone body synthesis
acidosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.880464/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.880464/full

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