Mitochondrial disease

Gene: DGUOK

Green List (high evidence)

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion.

The three associations likely represent a continuum of severity for a mitochondrial disorder.

Created: 7 May 2022, 8:30 a.m. | Last Modified: 7 May 2022, 8:30 a.m.

Panel Version: 0.13916

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070

Publications

• 11687800
• 12874104
• 15887277
• 23043144
• 26874653