combined oxidative phosphorylation deficiency 16

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.

Signs and symptoms

• Hypertrophic cardiomyopathy
• Microvesicular hepatic steatosis
• Elevated circulating aspartate aminotransferase concentration
• Increased circulating lactate concentration
• Elevated circulating alanine aminotransferase concentration
• Cytochrome C oxidase-negative muscle fibers

Also known as: COXPD16; infantile hypertrophic cardiomyopathy due to MRPL44 deficiency