Fumarase deficiency

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Fumarase Deficiency

Fumarase deficiency (pronounced fyoo-MAR-ayss dee-FISH-en-see) is a rare metabolic disorder that primarily affects the nervous system.

Etymology

The term "Fumarase" is derived from the Latin word "fumus" which means smoke. The enzyme was named for its role in the Krebs cycle, where it catalyzes the hydration of fumarate to malate. The term "deficiency" comes from the Latin word "deficientia" meaning lack or shortage.

Definition

Fumarase deficiency is a condition characterized by a lack of the enzyme Fumarase, which is necessary for the Krebs cycle, a series of chemical reactions used by cells to produce energy. This deficiency leads to an accumulation of fumaric acid and other potentially toxic compounds in the body.

Symptoms

Symptoms of fumarase deficiency can include developmental delay, seizures, and encephalopathy. Some individuals may also have distinctive facial features, such as a prominent forehead, low-set ears, and a small jaw.

Causes

Fumarase deficiency is caused by mutations in the FH gene. This gene provides instructions for making the enzyme fumarase. The mutations prevent the production of this enzyme, leading to a shortage (deficiency) of fumarase in cells.

Diagnosis

Diagnosis of fumarase deficiency is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests can include magnetic resonance imaging (MRI), genetic testing, and biochemical testing to measure the levels of certain substances in the body.

Treatment

There is currently no cure for fumarase deficiency. Treatment is symptomatic and supportive, and may include medications to manage seizures, physical therapy to improve muscle tone, and special education services for those with developmental delays.

Related Terms

External links

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