Abstract
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.
MeSH terms
-
Brain / pathology
-
DNA Mutational Analysis
-
DNA, Mitochondrial / genetics*
-
Follow-Up Studies
-
Gene Frequency
-
Humans
-
Infant, Newborn
-
Leigh Disease / diagnosis
-
Leigh Disease / genetics*
-
Leigh Disease / metabolism
-
Magnetic Resonance Imaging
-
Male
-
Methylmalonic Acid / blood
-
Methylmalonic Acid / urine*
-
Mitochondrial Encephalomyopathies / diagnosis
-
Mitochondrial Encephalomyopathies / genetics*
-
Mitochondrial Encephalomyopathies / metabolism
-
Mutation, Missense*
-
Polymerase Chain Reaction
-
Succinate-CoA Ligases / genetics*
-
Time Factors
Substances
-
DNA, Mitochondrial
-
Methylmalonic Acid
-
Succinate-CoA Ligases
-
SUCLA2 protein, human