TFP deficiency
TFP Deficiency TFP Deficiency, also known as Trifunctional Protein Deficiency, is a rare metabolic disorder that affects the body's ability to break down certain fats into energy. This condition is part of a group of disorders known as fatty acid oxidation disorders.
Overview[edit | edit source]
TFP Deficiency is caused by mutations in the HADHA or HADHB genes, which provide instructions for making the trifunctional protein complex. This complex is essential for the breakdown of long-chain fatty acids. When this process is disrupted, fatty acids accumulate in the body, leading to a variety of health problems.
Symptoms[edit | edit source]
The symptoms of TFP Deficiency can vary widely among affected individuals and may include:
- Hypoglycemia (low blood sugar)
- Muscle weakness
- Cardiomyopathy (heart muscle disease)
- Liver dysfunction
- Neurological issues
Symptoms often present in infancy or early childhood, but some individuals may not show signs until later in life.
Diagnosis[edit | edit source]
Diagnosis of TFP Deficiency typically involves:
- Newborn screening
- Blood tests to measure acylcarnitine levels
- Genetic testing to identify mutations in the HADHA or HADHB genes
Treatment[edit | edit source]
There is no cure for TFP Deficiency, but treatment focuses on managing symptoms and preventing complications. This may include:
- A low-fat, high-carbohydrate diet
- Medium-chain triglyceride (MCT) oil supplements
- Avoiding fasting
- Regular monitoring by healthcare professionals
Genetics[edit | edit source]
TFP Deficiency is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an individual with TFP Deficiency each carry one copy of the mutated gene but typically do not show symptoms.
Related Conditions[edit | edit source]
TFP Deficiency is related to other fatty acid oxidation disorders, such as:
Research and Support[edit | edit source]
Ongoing research aims to better understand TFP Deficiency and develop new treatments. Support groups and resources are available for affected individuals and their families.
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
TFP deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
