mitochondrial DNA depletion syndrome 9

Term ID

DOID:0080128

Synonyms

• fatal infantile lactic acidosis

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. (5)

References

• MESH:C580473
• OMIM:245400
• ORDO:17

Ontology

Human Disease   ( DOID:0080128 )