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Combined oxidative phosphorylation deficiency 16
Other Names: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency; Combined oxidative phosphorylation defect type 16; COXPD16
Combined oxidative phosphorylation deficiency 16, also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes.
Cause
It is caused by mutations in the MRPL44 gene, which results in mitochondrial dysfunction.
Inheritance
The cases described seem to be inherited in an autosomal recessive pattern.
Signs and symptoms
The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging (MRI), kidney insufficiency and neurological disease.
Diagnosis
Treatment
NIH genetic and rare disease info
Combined oxidative phosphorylation deficiency 16 is a rare disease.
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