Mitochondrial disease

Gene: ABAT

Green List (high evidence)

Bi-allelic variants in ABAT are associated with a neurotransmitter disorder. However, there are also reports of families with encephalomyopathic MDS caused by bi-allelic variants in ABAT resulting in elevated GABA in subjects' brains as well as decreased mtDNA levels in subjects' fibroblasts. Nucleoside rescue and co-IP experiments demonstrate that ABAT functions in the mitochondrial nucleoside salvage pathway to facilitate conversion of dNDPs to dNTPs. Unclear whether this a distinct disorder or part of a continuum caused by the enzyme being part of two pathways.

Created: 23 Aug 2020, 2:10 a.m. | Last Modified: 23 Aug 2020, 2:10 a.m.

Panel Version: 0.460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mtDNA depletion syndrome (MDS)

Publications

• 25738457
• 27903293