Mitochondrial Trifunctional Protein (MTP) Deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency) and Mitochondrial Trifunctional protein deficiency (MTP deficiency) also known as Trifunctional Protein (TFP) deficiency are disorders due to different defects in the MTP. MTP is an enzyme complex at the inner mitochondrial membrane with three enzymatic activities, long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl hydratase and 3-keto acyl-CoA thiolase activities. Both isolated LCHAD deficiency and MTP deficiency, which has deficiencies in all 3 enzyme activities, have overlapping clinical presentations. The variable presentation includes infantile hypoketotic hypoglycemia, vomiting, lethargy, hypotonia, and failure to thrive. Additional presentations are cardiomyopathy and cardiac conduction defects, severe liver disease, recurrent muscle cramps, seizures, coma or sudden death (SIDS). Peripheral neuromyopathy, and pigmentary retinopathy may develop at a later age. The high mortality rate for these disorders, estimated at 38%, is usually due to a Reye-like illness or fatal cardiomyopathy. Syndromes of maternal illness, HELLP (hypertension, elevated liver enzymes, low platelets) and AFLP (acute fatty liver of pregnancy) may occur in a pregnancy carrying a fetus with LCHAD/MTP deficiency.

Tests Available

Forms and Documents

Test Details

HADHA
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2711
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Tyni, T and Pihko, H. (1999) Acta Paediatr 88:237-245
  2. Hintz, S. R., et al. (2002) Mol Genet Metab 75:120-127
  3. den Boer MEJ, et al. (2002) Pediatrics 109:99-104
  4. Ibdah, J.A., et al. (1999) N Engl J Med 340:1723-1731
  5. Das, A.M. et al., (2006) Clin Chem 52:530-534

Forms and Documents

Test Details

HADHA
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2712
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Tyni, T and Pihko, H. (1999) Acta Paediatr 88:237-245
  2. Hintz, S. R., et al. (2002) Mol Genet Metab 75:120-127
  3. den Boer MEJ, et al. (2002) Pediatrics 109:99-104
  4. Ibdah, J.A., et al. (1999) N Engl J Med 340:1723-1731
  5. Das, A.M. et al., (2006) Clin Chem 52:530-534

Forms and Documents

Test Details

HADHB
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

272
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Tyni, T and Pihko, H. (1999) Acta Paediatr 88:237-245
  2. Hintz, S. R., et al. (2002) Mol Genet Metab 75:120-127
  3. den Boer MEJ, et al. (2002) Pediatrics 109:99-104
  4. Ibdah, J.A., et al. (1999) N Engl J Med 340:1723-1731
  5. Das, A.M. et al., (2006) Clin Chem 52:530-534