Table 3.

Mitochondrial DNA Depletion Syndromes

Phenotype 1GeneMitochondrial DNA Depletion Syndrome #, TypeReference 2
Hepato-
cerebral		 DGUOK 3, hepatocerebral type Deoxyguanosine Kinase Deficiency
POLG 4A, Alpers type POLG-Related Disorders
MPV17 6, hepatocerebral type MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
TWNK (C10orf2)7, hepatocerebral typeOMIM 271245
TFAM 15, hepatocerebral typeOMIM 617156
Encephalo-
myopathic		 SUCLA2 5, encephalomyopathic type w/methylmalonic aciduria SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
FBXL4 13, encephalomyopathic typeFBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
SUCLG1 9, encephalomyopathic type with methylmalonic aciduria SUCLG1-Related mtDNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
RRM2B 8A, encephalomyopathic type w/renal tubulopathy RRM2B-Related Mitochondrial Disease
OPA1 14, encephalocardiomyopathic typeOMIM 616896
ABAT Encephalomyopathic typeOMIM 613163
Neurogastro-
intestinal		 TYMP 1, MNGIE type Mitochondrial Neurogastrointestinal Encephalopathy Disease
POLG 4B, MNGIE type POLG-Related Disorders
RRM2B 8B, MNGIE type RRM2B-Related Mitochondrial Disease
Myopathic TK2 2, myopathic type TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
AGK 10, cardiomyopathic type (Sengers syndrome)OMIM 212350
MGME1 11, myopathic typeOMIM 615084
SLC25A4 12B, cardiomyopathic typeOMIM 615418
1.

Within each phenotypic category, mtDNA depletion syndromes are ordered by relative prevalence.

2.

See hyperlinked GeneReview or OMIM phenotype entry for more information.

From: FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome

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