Fumarate hydratase deficiency is an inherited disorder that causes infantile encephalopathy (alteration of brain structure).
Symptoms include poor feeding, failure to thrive, lethargy, and seizures.
This condition is caused by pathogenic (disease-causing) variants in the FH gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Carriers may have an increased risk for a condition called hereditary leiomyomatosis and renal cell cancer (HLRCC), which is characterized by an increased risk for kidney cancer and the development of benign tumors of the skin (cutaneous leiomyomas) and, in females, the uterus (uterine leiomyomas). If you are found to be a carrier, a genetic counselor can talk to you in more detail about this risk and what it means.
Other names for this condition include FH-related conditions and fumarase deficiency.
Resources:
Genetic and Rare Diseases Information Center (GARD)
Revised August 2022
