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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
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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