Fumarase Deficiency - Symptoms, Reasons And Treatment

Fumarase deficiency is a rare genetic disorder affecting the body's metabolism. This condition disrupts a specific enzyme responsible for energy production. It can lead to various health challenges. Although this condition is not well known, understanding its impact is crucial for proper management.

Genetic mutations play a significant role in the development of fumarase deficiency. By raising awareness and promoting early detection, individuals with this condition can receive the necessary support and care. Consulting a healthcare professional for personalized guidance is essential for individuals affected by fumarase deficiency.

Symptoms of Fumarase Deficiency

Patients may also experience poor muscle tone, poor growth, and abnormal brain function. These symptoms can vary in severity from mild to severe, impacting a person's quality of life. Early diagnosis and management are crucial for improving outcomes.

Difficulty reaching developmental milestones: Children with fumarase deficiency may have delays in learning to walk, talk, or meet other developmental goals.
Seizures: Some individuals with fumarase deficiency may experience seizures, which can vary in severity and frequency.
Enlarged head size: Babies with fumarase deficiency may have an abnormally large head size, a condition known as macrocephaly.
Low muscle tone: Individuals with fumarase deficiency may have weak muscles, leading to poor muscle strength and coordination.
Feeding difficulties: Babies with fumarase deficiency may have trouble feeding due to weak muscle tone, which can result in poor weight gain and growth.

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Causes of Fumarase Deficiency

This gene provides instructions for making the fumarase enzyme, which plays a crucial role in the citric acid cycle. When this enzyme is deficient, it leads to impaired energy production and the accumulation of harmful substances in the body, resulting in various symptoms and complications.

Fumarase deficiency can be caused by mutations in the FH gene, which is responsible for encoding the fumarase enzyme.
Inheritance of fumarase deficiency can occur in an autosomal recessive manner, with both parents passing on a mutated gene to their child.
Certain genetic conditions, such as hereditary leiomyomatosis and renal cell cancer (HLRCC), are associated with an increased risk of fumarase deficiency.
Exposure to environmental toxins or chemicals that disrupt the function of the fumarase enzyme can contribute to the development of fumarase deficiency.
Rarely, fumarase deficiency may be acquired later in life due to factors such as severe illness or certain medications affecting the enzyme

Types Of Fumarase Deficiency

Fumarase deficiency can be categorized into two main types: Type I and Type II. Type I typically presents with severe neurological symptoms, while Type II tends to manifest with less severe symptoms, such as developmental delays. Both types are rare inherited disorders that affect the body's ability to break down fumaric acid. Early diagnosis and management are crucial for individuals with fumarase deficiency.

Autosomal Recessive Fumarase Deficiency: This rare genetic disorder is inherited in an autosomal recessive manner, meaning that both parents must pass on a mutated copy of the fumarase gene for the condition to manifest in their child.
Neonatal-Onset Fumarase Deficiency: This form of fumarase deficiency presents in the neonatal period with severe symptoms such as developmental delays, failure to thrive, seizures, and neurological impairments.
Late-Onset Fumarase Deficiency: In some cases, individuals may not show symptoms of fumarase deficiency until later in life, typically presenting with neurological symptoms such as cognitive decline, ataxia, and seizures.

Risk Factors

Risk factors for fumarase deficiency include inheriting the mutated gene from both parents, known as autosomal recessive inheritance. Individuals with a family history of the condition are at a higher risk. Certain populations, such as those with a high rate of consanguinity, are also more likely to be affected. Early detection and genetic counseling are crucial for managing the risk.

Family history of fumarase deficiency increases the risk for inheriting the condition.
Consanguineous marriages, especially within populations with a higher carrier rate, can elevate the risk of fumarase deficiency in offspring.
Certain genetic mutations or variants in the FH gene can predispose individuals to fumarase deficiency.
Prenatal exposure to environmental factors that disrupt fumarate metabolism may contribute to the development of fumarase deficiency.
Individuals with a history of neurological symptoms, developmental delays, or seizures may be at higher risk for fumarase deficiency due to the potential impact on brain function.

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Diagnosis of Fumarase Deficiency

Blood and urine tests may also be done to measure levels of certain substances. Imaging tests like MRI can show brain abnormalities associated with the condition. Early diagnosis is crucial for managing symptoms and preventing complications. If you suspect fumarase deficiency, consult a genetic counselor or healthcare provider for testing and guidance.

Genetic testing: A definitive diagnosis of fumarase deficiency can be made through genetic testing to identify mutations in the FH gene.
MRI imaging: Brain MRI scans can reveal characteristic abnormalities in the brain that are indicative of fumarase deficiency.
Metabolic testing: Analysis of biochemical markers in blood and urine samples can help detect elevated levels of specific metabolites associated with fumarase deficiency.
Enzyme activity assay: Measurement of fumarase enzyme activity in cells or tissues can provide valuable information about the functioning of the enzyme and help confirm the diagnosis.
Clinical evaluation: A thorough physical examination and assessment of symptoms, such as developmental delays and neurological deficits, are essential components of diagnosing fumarase deficiency

Treatment for Fumarase Deficiency

Treatment for fumarase deficiency aims to manage symptoms and support overall health. This may include a special diet low in protein, medications to control seizures, physical therapy, and close monitoring by healthcare providers. In some cases, organ transplantation may be considered. It is important for patients to work closely with their healthcare team to develop a personalized treatment plan.

Medications such as citrate and malate supplements may be prescribed to help replenish depleted levels of citrate and malate in individuals with fumarase deficiency, thereby supporting the impaired enzyme function.
Dietary modifications that focus on consuming foods rich in citric acid cycle intermediates, such as citrus fruits, green leafy vegetables, and whole grains, can help provide alternative sources of energy production in individuals with fumarase deficiency.
Physical and occupational therapy may be recommended to address developmental delays and motor impairments commonly associated with fumarase deficiency, aiming to improve mobility, coordination, and overall quality of life.
Regular monitoring and management of symptoms by a multidisciplinary team of healthcare professionals, including genetic counselors,

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Frequently Asked Questions

What early signs should I look for with fumarase deficiency?

Early signs of fumarase deficiency may include developmental delays, poor muscle tone, seizures, and intellectual disabilities. Early diagnosis is crucial for timely treatment.

Are there specific things I should or shouldn't do when dealing with fumarase deficiency?

Avoid strenuous exercise, high-protein foods, and certain medications. Follow a low-protein diet and work closely with healthcare providers for management.

Can fumarase deficiency lead to other health issues?

Yes, fumarase deficiency can lead to a range of health issues including developmental delays, neurological problems, and seizures. Regular monitoring is crucial.