mitochondrial DNA depletion syndrome 17

A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutatio

A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.

Signs and symptoms

• Cerebral atrophy
• Status epilepticus
• Hepatic failure
• Seizure
• Low plasma citrulline
• Cerebellar atrophy
• Spastic tetraparesis
• Global developmental delay
• Chorea
• Epilepsia partialis continua