Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Deficiency of the mitochondrial succinyl-CoA ligase/s...

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Bibliographic Details
Main Authors: Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C. Anthony Rupar, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Neurology
Subjects:
methylmalonic acid
mitochondrial DNA depletion syndrome
SUCLG1
SUCLA2
mitochondrial disorder
dystonia
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1265115/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1265115/full

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