Combined oxidative phosphorylation deficiency-17 (COXPD17) is a very rare autosomal recessive mitochondrial disease characterized primarily by onset of severe hypertrophic cardiomyopathy in the first year of life.
Causes and inheritance COXPD17 is caused by homozygous or compound heterozygous mutations in the ELAC2 gene that functions as a mitochondrial tRNA processing gene.
It follows an autosomal recessive inheritance pattern, which means:
Individuals with one mutated copy (heterozygous carriers) are typically asymptomatic and do not show clinical features of the disease.
When both parents are carriers, their children have:
25% (1 in 4) chance of being affected. 50% (2 in 4) chance of being asymptomatic carriers. 25% (1 in 4) chance of not inheriting the mutation.
Symptoms Symptoms of COXPD17 include:
Hypertrophic cardiomyopathy Failure to thrive Poor growth Hypotonia Lactic acidosis
Onset The disorder presents during early infancy, with hypertrophic cardiomyopathy appearing within the first months of life. It may be fatal in early childhood.
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