mitochondrial DNA depletion syndrome 5

A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_m

A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.

Signs and symptoms

• Hyperkinetic movements
• Dystonia
• Hypotonia
• Motor delay
• Methylmalonic acidemia
• Skeletal muscle atrophy
• Generalized-onset seizure
• Increased CSF lactate
• Severe global developmental delay
• Small for gestational age

Also known as: succinate-CoA ligase deficiency