Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Definition
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 combined oxidative phosphorylation defect type 16, combined oxidative phosphorylation deficiency caused by mutation in MRPL44, combined oxidative phosphorylation deficiency type 16, COXPD16, MRPL44 combined oxidative phosphorylation deficiency — per MONDO