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Prevalence (%) of clinical parameters based on data from 3 references describing 6 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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