mitochondrial DNA depletion syndrome 15

A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed

A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21.

Signs and symptoms

• Hypermethioninemia
• Cholestasis
• Hepatic failure
• Hypertyrosinemia
• Depletion of mitochondrial DNA in muscle tissue
• Hypoglycemia
• Elevated circulating hepatic transaminase concentration
• Ascites
• Intrauterine growth retardation
• Microvesicular hepatic steatosis