SNP Shot: Genomic Insights

Combined oxidative phosphorylation deficiency 1 (COXPD1) is a serious disorder affecting mainly the brain and liver.

Individuals with COXPD1 often experience severe brain problems (encephalopathy) that worsen progressively. They typically struggle with growth and weight gain (failure to thrive). Other common symptoms include abnormal muscle tone, developmental delays, seizures, peripheral neuropathy (loss of sensation in the limbs), and microcephaly (small head). Liver disease, often progressing rapidly to liver failure, is also frequently observed. Furthermore, affected individuals commonly develop lactic acidosis, a dangerous buildup of lactic acid in the body.

The neurological problems associated with COXPD1 are primarily caused by brain abnormalities such as corpus callosum hypoplasia (thinning of the tissue connecting the two brain hemispheres) and leukodystrophy (loss of white matter), particularly in the basal ganglia, a brain region important for movement control.

The majority of individuals with COXPD1 do not survive beyond early childhood, although longer survival is possible in some cases.

Inheritance:

COXPD1 follows an autosomal recessive inheritance pattern. This means that to be affected, an individual must inherit a mutated copy of the responsible gene from each parent. The parents, who each carry one copy of the mutated gene, usually do not exhibit any symptoms of the condition themselves.