Encephalomyopathy with methylmalonic aciduria

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Prevalence of clinical parameters (%)

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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,

Fatal infantile lactic acidosis is a severe metabolic disorder characterized by the onset of lactic acidosis within the 1st d of life and early death. We found a combined respiratory-chain enzyme deficiency associated with mitochondrial DNA (mtDNA) depletion in a small consanguineous family with this disorder. To identify the disease-causing gene, we performed single-nucleotide polymorphism homozygosity mapping and found homozygous regions on four chromosomes. DNA sequencing revealed a homozygous 2-bp deletion in SUCLG1, a gene that encodes the alpha subunit of the Krebs-cycle enzyme succinate-coenzyme A ligase (SUCL). The mtDNA depletion is likely explained by decreased mitochondrial nucleoside diphosphate kinase (NDPK) activity resulting from the inability of NDPK to form a complex with SUCL.

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,

Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.

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,

Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only.

Journal of medical genetics - Oct 2010