Mitochondrial DNA depletion syndrome
Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant.
There is currently no cure for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms.
References[change | change source]
- Elpeleg O (2003). "Inherited mitochondrial DNA depletion". Pediatr Res. 54 (2): 153–9. doi:10.1203/01.PDR.0000072796.25097.A5. PMID 12736387.
- Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, et al. (March 2016). "Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients". Journal of Inherited Metabolic Disease. 39 (2): 243–52. doi:10.1007/s10545-015-9894-9. PMID 26475597.
- Finsterer, J; Ahting, U (September 2013). "Mitochondrial depletion syndromes in children and adults". The Canadian journal of neurological sciences. 40 (5): 635–44. doi:10.1017/S0317167100014852. PMID 23968935.
- Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T (May 2012). "Pyruvate therapy for mitochondrial DNA depletion syndrome". Biochimica et Biophysica Acta. 1820 (5): 632–6. doi:10.1016/j.bbagen.2011.08.006. PMID 21855607.