mitochondrial DNA depletion syndrome 9

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 recess

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.

Signs and symptoms

• Floppy infant
• Poor head control
• Hearing impairment
• Hypothermia
• Hypotonia
• Elevated lactate:pyruvate ratio
• Motor delay
• Elevated circulating alanine aminotransferase concentration
• Severe intellectual disability
• Hyperhidrosis

Also known as: fatal infantile lactic acidosis