infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Rare Disease

MONDO:0014162

Also Known As

COXPD16MRPL44 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 16combined oxidative phosphorylation deficiency caused by mutation in MRPL44combined oxidative phosphorylation deficiency type 16combined oxidative phosphorylation deficiency 16

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.