Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
Combined oxidative phosphorylation deficiency 1 is a very rare autosomal recessive disorder caused by pathogenic variants in the gene GFM1. No ethnic predisposition is currently known. Loss of function of the protein encoded by GFM1 results in impaired ability of the mitochondria to produce energy for the cell. The disease usually presents within the first several days of life with feeding difficulties and/or seizures. Primary disease phenotypes include either liver dysfunction or encephalopathy. The disease is fatal in infancy or early childhood. A genotype-phenotype correlation has been proposed to explain the different primary phenotypes.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.