Mitochondrial DNA depletion syndrome

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Mitochondrial DNA depletion syndrome, encephalomyopathic form

ORPHA:254803Clinical group

Also called mtDNA depletion syndrome, encephalomyopathic form

What it is

Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Clinical group

Recorded for the broader condition

Prevalence
1-9 / 1 000 000 (at birth, Israel)Mitochondrial DNA depletion syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes reported in subtypes

FBXL4RRM2BSUCLA2SUCLG1

Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:

Fatal infantile lactic acidosis with methylmalonic aciduriaMitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaMitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathyMitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0016796MONDO 16796OMIM 612073OMIM 612075UMLS C4707428

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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