infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

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.


Synonyms

  • COXPD16
  • MRPL44 combined oxidative phosphorylation deficiency
  • combined oxidative phosphorylation defect type 16
  • combined oxidative phosphorylation deficiency 16
  • combined oxidative phosphorylation deficiency caused by mutation in MRPL44
  • combined oxidative phosphorylation deficiency type 16COXPD16
  • MRPL44 combined oxidative phosphorylation deficiency
  • combined oxidative phosphorylation defect type 16
  • combined oxidative phosphorylation deficiency 16
  • combined oxidative phosphorylation deficiency caused by mutation in MRPL44
  • combined oxidative phosphorylation deficiency type 16