Molecular Genetics Trifunctional Protein Deficiency

The mitochondrial trifunctional protein complex is required for long-chain fatty acid metabolism, a metabolic process allowing for cells to utilize fats as an energy source instead of glucose and prevent the buildup of these fatty acids in the liver, heart, and muscles. Biochemical tests are carried out during newborn screening to assess metabolic markers for trifunctional protein deficiency.  Patients may present in infancy or later in life with lethargy, hypoglycemia, hypotonia, myopathy, peripheral neuropathy, and liver function abnormalities. This next-generation sequencing panel targets the coding regions for 2 genes associated with trifunctional protein deficiency.

Reasons for Referral:

• Abnormality in newborn screening
• Confirmation of a clinical diagnosis
• Carrier testing

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

Trifunctional Protein Deficiency (2 genes): HADHA, HADHB