Coenzyme Q10 Deficiency, Primary, 5 (COQ10D5)
Coenzyme Q10 Deficiency, Primary, 5 (COQ10D5)
OMIM number: 614654
Comments closing date: 11/02/2025
Coenzyme Q9 deficiency is a genetic condition
caused by a single gene. Affected individuals have
two copies of the altered gene. Coenzyme Q9
deficiency leads to Coenzyme Q10 which
manifests in a lethal condition which causes
problems with the function in mitochondria, which
are the cellular structures responsible for creating
energy within our cells. Affected babies may show
signs of growth restriction and have small head
measurements during pregnancy. After birth,
babies can fit and die. There can be poor feeding,
inability to regulate body temperature, build of
lactic acid in the muscles and have fits that may
not cease. In early childhood there is severe
developmental delay and brain, heart and kidney
abnormalities. Affected children all die at early
childhood.
Review date: 14 January 2027
