Encephalomyopathy with methylmalonic aciduria

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Prevalence (%) of clinical parameters based on data from 3 references describing 6 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
Lactate accumulation circulatory 100 % 17668387 2011-10-19
Early death multi 100 % 17668387 2011-10-08
Lactate accumulation circulatory 100 % 19526370 2011-10-08
Lactate accumulation circulatory 100 % 20693550 2011-10-08
Hypothermia multi 66 % 17668387 2011-10-10
Methylmalonic aciduria urinary 66 % 17668387 2011-10-08
Hypotonia nervous 66 % 17668387 2011-10-10
Early death multi 50 % 20693550 2011-10-08
Hypoglycemia multi 33 % 17668387 2011-10-10

List of references:

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.
Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno, Eric A Shoubridge, Flemming Wibrand,

American journal of human genetics - Aug 2007

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Elsebet Ostergaard, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme,

European journal of pediatrics - Feb 2010

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
C Rouzier, S Le Guédard-Méreuze, K Fragaki, V Serre, J Miro, S Tuffery-Giraud, A Chaussenot, S Bannwarth, C Caruba, E Ostergaard, J-F Pellissier, C Richelme, C Espil, B Chabrol, V Paquis-Flucklinger,

Journal of medical genetics - Oct 2010