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Combined oxidative phosphorylation deficiency 16 , also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes. 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. It is caused by mutations in the MRPL44 gene, which results in mitochondrial dysfunction. The cases described seem to be inherited in an autosomal recessive pattern. Treatment is supportive.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
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|Prominent median palatal raphe|
|Increased serum lactate|
|Prominent scalp veins|
|Autosomal recessive inheritance|
|Elevated hepatic transaminase|
|Microvesicular hepatic steatosis|
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