Trifunctional protein deficiency (TFP)

Gene
HADHB
Location
2p23
Disease
Trifunctional protein deficiency (TFP)
Description
Mitochondrial trifunctional protein deficiency prevents the body from converting certain fats into energy.
Signs and Symptoms
Symptoms include feeding difficulties, lethargy, low blood sugar, and liver problems. High risk for heart problems, breathing difficulty, coma and sudden death. This disorder can also arise from mutations in the HADHA gene.
Type
Fatty Acid Disorder
Category
Core

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