Definition

A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.

Synonyms

fatal infantile lactic acidosis

Cross References

Parent Terms

Child Terms

None

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mitochondrial DNA depletion syndrome 9

mitochondrial DNA depletion syndrome 9

Associated Genes

Associated Alleles

Associated Models