ABIGAIL FDXR GENE MUTATION TUCSON, AZ

Abigail's Story

In 2019, Abigail was diagnosed with a biallelic mutation of the FDXR gene. The FDXR gene codes for the protein, ferredoxin reductase, which is involved in the electron transport chain by transferring electrons to the mitochondrial cytochrome P-450 system. It is a complex disease that leads to neurodegeneration from inflammation and an abnormal buildup of iron in the mitochondria.

Abigail is in first grade and has absolutely loved making friends and being in the school environment. She will proudly sing the spelling of almost all the colors! Abigail is currently transitioning to a wheelchair and posterior walker so she can continue to safely navigate her environment. She is very low vision, but has adapted to tactile observations of her environment. She wants to be a basketball player when she grows up. Abigail has one sister, Mia, who is a dinosaur master and wants to be a paleontologist when she grows up.

FDXR Gene Mutation

The FDXR gene codes for the protein, ferredoxin reductase, which is involved in the electron transport chain by transferring electrons to the mitochondrial cytochrome P-450 system. It is a complex disease that leads to neurodegeneration from inflammation and an abnormal buildup of iron in the mitochondria.

Mutations of the FDXR gene were recently reported to be associated with a variable mitochondrial disorder characterized by sensorineural hearing loss, visual impairment, and systemic, particularly neurological, manifestations.