How is Fumarase deficiency diagnosed?

A variety of brain abnormalities may be detected on MRI . Fumarase deficiency is caused by mutations in the FH gene and inheritance is autosomal recessive . Unfortunately, there is no effective treatment at this time.

What is fumarate hydratase deficiency?

Clinical characteristics: Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes.

What is Hlrcc?

A rare, inherited disorder in which benign (not cancer) skin lesions called leiomyomas form in the smooth muscle tissue around the hair follicles. They usually form on the arms, legs, chest, and abdomen. Benign leiomyomas may also form as fibroids in the uterus in females.

What type of enzyme is Fumarase?

Fumarase is a TCA cycle enzyme which catalyzes the conversion of fumarate to L-malate in the mitochondria. Upon DNA damage the cytosolic echoform of fumarase is localized to the nucleus, there, its enzymatic activity catalyzes the reverse conversion of malate to fumarate, so causing local accumulation of fumarate.

Are there pathogenic variants for fumarate hydratase deficiency?

This protocol does not cover pathogenic variant testing for the recessive metabolic disorder fumarate hydratase deficiency. 1. An individual with clinical features suggestive of HLRCC:

What causes fumarase deficiency in the human body?

Several were born in an isolated religious community in the southwestern United States. Fumarase deficiency is caused by mutations in the FH gene. This gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase).

How does the FH gene affect the function of fumarase?

Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. Mutations in the FH gene disrupt the enzyme’s ability to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle.

What is the role of fumarase in the citric acid cycle?

Fumarase deficiency is caused by mutations in the FH gene. This gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy.