Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

Also known as: COXPD16, MRPL44 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 16, combined oxidative phosphorylation deficiency caused by mutation in MRPL44, combined oxidative phosphorylation deficiency type 16, combined oxidative phosphorylation deficiency 16

13 clinical trials for this condition and its sub-types, 0 tagged with Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency itself.