Encephalomyopathy with methylmalonic aciduria
MTDPS5

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Prevalence (%) of clinical parameters based on data from 2 references describing 16 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hearing loss nervous 100 % 17301081 2011-10-19
Mental retardation nervous 100 % 15877282 2011-10-11
Hypotonia nervous 100 % 17301081 2011-10-11
Developmental delay nervous 100 % 15877282 2011-10-11
Hypotonia nervous 100 % 15877282 2011-10-11
Hearing loss nervous 100 % 15877282 2011-10-18
Seizures nervous 100 % 15877282 2011-10-11
Developmental delay multi 100 % 17301081 2011-10-12
Dystonia nervous 93 % 17301081 2011-10-11
Cerebral atrophy nervous 91 % 17301081 2011-10-14
Basal ganglia pathology nervous 90 % 17301081 2011-10-14
Lactate accumulation circulatory 83 % 17301081 2011-10-11
Neuropathy nervous 71 % 17301081 2011-10-12
Ophthalmoplegia nervous 71 % 17301081 2011-10-11
Gastrointestinal dysmotility digestive 50 % 15877282 2011-10-11
Cerebral atrophy nervous 50 % 15877282 2011-10-11
Contracture nervous 50 % 15877282 2011-10-11
Dystonia nervous 50 % 15877282 2011-10-11
Ptosis nervous 50 % 15877282 2011-10-11
Cerebellar atrophy nervous 18 % 17301081 2011-10-14



List of references:


SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Rosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, Simona Lucioli, Federica Deodato, Sivia Di Giandomenico, Enrico Bertini, Barbara Franke, Leo A J Kluijtmans, Maria Chiara Meschini, Cristiano Rizzo, Fiorella Piemonte, Richard Rodenburg, René Santer, Filippo M Santorelli, Arno van Rooij, Diana Vermunt-de Koning, Eva Morava, Ron A Wevers,



Brain : a journal of neurology - Mar 2007



Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner-Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair Pagnamenta, Sharon Eshhar, Ann Saada,



American journal of human genetics - Jun 2005