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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>SUCLG1-related mtDNA depletion syndrome is caused by variants (also called mutations) in the SUCLG1 gene. The SUCLG1 gene provides instructions for making one part (the alpha 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 SUCLG1 gene lead to the production of an altered version of the alpha 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.</p><p>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 hypotonia, muscle weakness, and the other characteristic features of SUCLG1-related mtDNA depletion syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/suclg1-related-mitochondrial-dna-depletion-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes SUCLG1-related mitochondrial DNA depletion syndrome?"},{"bodyHtml":"<p>People with SUCLG1-related mtDNA depletion syndrome can have serious health complications, which result in a shortened lifespan. Individuals with SUCLG1-related mtDNA depletion syndrome typically do not survive past childhood.</p><p>Some infants with SUCLG1-related mtDNA depletion syndrome develop a toxic buildup of acids in the body in the first few days of life. This form of the disorder is called fatal infantile lactic acidosis. Infants with fatal infantile lactic acidosis typically only survive for a few days after birth.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/suclg1-related-mitochondrial-dna-depletion-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"suclg1-related-mitochondrial-dna-depletion-syndrome","sourceDocuments":[{"name":"SUCLG1-related mitochondrial DNA depletion syndrome","reviewed":"2024-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:21.019850+00:00","label":"Causes","pageSha256":"67effc8c513b8225229d5d09d52a11aab17f915cd1b29f4574b4c8c5b967d84e","sourceUrl":"https://medlineplus.gov/genetics/condition/suclg1-related-mitochondrial-dna-depletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/suclg1-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":"SUCLG1-related mitochondrial DNA depletion syndrome"},"schemaVersion":1}