mitochondrial DNA depletion syndrome 1

A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and

A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.

Signs and symptoms

• Distal muscle weakness
• Ophthalmoparesis
• Diplopia
• Allodynia
• Elevated circulating thymidine concentration
• Elevated circulating deoxyuridine concentration
• Hypoesthesia
• Reduced tissue thymidine phosphorylase activity
• Sensorimotor neuropathy
• Weight loss

Also known as: mitochondrial DNA depletion syndrome 1 (MNGIE type); mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related