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depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0009830","is_excluded":false,"label":"Peripheral neuropathy","onset_id":null,"reference":"OMIM:612073","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/sucla2-related-mitochondrial-dna-depletion-syndrome\">SUCLA2-related mitochondrial DNA depletion syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>SUCLA2-related mtDNA depletion syndrome is caused by variants (also called mutations) in the SUCLA2 gene. The SUCLA2 gene provides instructions for making one part (the beta subunit) of an enzyme called succinyl-CoA ligase. This enzyme plays an important role in mitochondria, which are the energy-producing centers inside the cell. Succinyl-CoA ligase is involved in producing and maintaining the molecules that make up mtDNA, which is essential for the normal function of mitochondria.</p><p>Variants in the SUCLA2 gene lead to the production of an altered version of the beta subunit, which disrupts the normal function of succinyl-CoA ligase. A shortage (deficiency) of the normal enzyme leads to problems with the production and maintenance of mtDNA. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs energy production in many of the body&#x27;s cells and tissues. These problems lead to the characteristic features of SUCLA2-related mtDNA depletion syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/sucla2-related-mitochondrial-dna-depletion-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes SUCLA2-related mitochondrial DNA depletion syndrome?"},{"bodyHtml":"<p>Additional features of SUCLA2-related mtDNA depletion syndrome can include uncontrolled movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. In most affected children, a substance called methylmalonic acid builds up in the blood.</p><p>People with SUCLA2-related mtDNA depletion syndrome typically have a shortened lifespan. Approximately 30 percent of individuals with SUCLA2-related mtDNA depletion syndrome do not survive past childhood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/sucla2-related-mitochondrial-dna-depletion-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"sucla2-related-mitochondrial-dna-depletion-syndrome","sourceDocuments":[{"name":"SUCLA2-related mitochondrial DNA depletion syndrome","reviewed":"2024-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:20.662593+00:00","label":"Causes","pageSha256":"2956ef8198b64c438b6a4dd8d47e7ce322236ce1636e10877339c01dd957fb58","sourceUrl":"https://medlineplus.gov/genetics/condition/sucla2-related-mitochondrial-dna-depletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/sucla2-related-mitochondrial-dna-depletion-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"SUCLA2-related mitochondrial DNA depletion syndrome"},"schemaVersion":1}