combined oxidative phosphorylation deficiency 9

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.

Signs and symptoms

• Hepatic steatosis
• Ketoacidosis
• Tubulointerstitial nephritis
• Global developmental delay
• Increased circulating lactate concentration
• Elevated lactate:pyruvate ratio
• Elevated serum anion gap
• Hypertrophic cardiomyopathy
• Metabolic acidosis
• Patent foramen ovale

Also known as: COXPD9