Learn About Fumarase Deficiency

What is the definition of Fumarase Deficiency?

Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.

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What are the causes of Fumarase Deficiency?

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. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate.

How prevalent is Fumarase Deficiency?

Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.

Is Fumarase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, people with one mutated copy of the FH gene in each cell, including parents of individuals with fumarase deficiency, tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. They also have an increased risk of kidney cancer. This condition is called hereditary leiomyomatosis and renal cell cancer (HLRCC).

Who are the top Fumarase Deficiency Local Doctors?
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Lady Ridgeway Hospital For Children

Colombo, LK 

Eresha Jasinge is in Colombo, Sri Lanka. Jasinge is rated as a Distinguished expert by MediFind in the treatment of Fumarase Deficiency. They are also highly rated in 10 other conditions, according to our data. Their top areas of expertise are Fumarase Deficiency, Dubin-Johnson Syndrome, Multiple Carboxylase Deficiency, and Biotinidase Deficiency.

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Hematology Oncology
Hematology

Mayo Clinic

Rochester, Minnesota

200 1st St Sw 
Rochester, MN 55905

Timothy Call is a Hematologist Oncology specialist and a Hematologist in Rochester, Minnesota. Dr. Call has been practicing medicine for over 42 years and is rated as a Distinguished doctor by MediFind in the treatment of Fumarase Deficiency. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Chronic Lymphocytic Leukemia, Chronic B-Cell Leukemia, Richter Syndrome, and Leukemia. He is licensed to treat patients in Minnesota. Dr. Call is currently accepting new patients.

 
 
 
 
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Hematology Oncology

Aspirus System

Aspirus Regional Cancer Center A Department Of Aspirus Wausau Hospital

215 N 28th Ave 
Wausau, WI 54401

Christopher Peterson is a Hematologist Oncology doctor in Wausau, Wisconsin. Dr. Peterson has been practicing medicine for over 24 years and is rated as a Distinguished doctor by MediFind in the treatment of Fumarase Deficiency. He is also highly rated in 66 other conditions, according to our data. His top areas of expertise are Dihydropyrimidine Dehydrogenase Deficiency, Erdheim-Chester Disease, Gracile Syndrome, and Multiple Symmetric Lipomatosis. He is licensed to treat patients in Wisconsin. Dr. Peterson is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date:updated Last, September

Published By: National Institutes of Health

What are the Latest Advances for Fumarase Deficiency?

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