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🔗 CustomizeMedical Overview of Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sources citedA rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.
Classification & codes: GARD 0003681 · Orphanet ORPHA:1933 · OMIM 612073 · ICD-10 G71.3
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
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Care & management overview — Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
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Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria News & Developments
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Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.