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Related Experiment Videos

Carnitine-acylcarnitine translocase deficiency.

S V Pande1

  • 1Laboratory of Intermediary Metabolism, Clinical Research Institute of Montreal, Quebec, Canada. spande@sprint.ca

The American Journal of the Medical Sciences
|July 17, 1999
PubMed
Summary

Carnitine-acylcarnitine translocase deficiency is a severe inherited metabolic disorder affecting fatty acid oxidation. Early diagnosis through prenatal testing is crucial for affected families to enable genetic counseling and management.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Carnitine-acylcarnitine translocase deficiency is an autosomal, recessively inherited disorder impacting mitochondrial fatty acid oxidation.
  • Severe deficiency is often fatal shortly after birth, presenting as skeletal myopathy, cardiac and liver abnormalities, and sudden infant death.
  • Symptoms include neonatal distress, seizures, hypoglycemia, hyperammonemia, hypoketonemia, and neurological deterioration.

Purpose of the Study:

  • To describe the clinical manifestations and genetic basis of carnitine-acylcarnitine translocase deficiency.
  • To highlight the importance of prenatal diagnosis for affected families.
  • To discuss the identification of mutations in cases of translocase deficiency.

Main Methods:

  • Analysis of clinical presentations in patients with near-total and partial translocase deficiency.

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  • Identification of genetic mutations associated with the deficiency.
  • Assays of translocase activity and fatty acid oxidation in cultured amniotic/villous cells for prenatal diagnosis.

    • Main Results:

    • Near-total deficiency leads to severe, early-onset symptoms and often fatal outcomes.
    • Partial deficiency (4-6% residual activity) presents with milder symptoms and no cardiac involvement.
    • Mutations in the single gene encoding the translocase protein have been identified in affected individuals.
    • Prenatal diagnosis is feasible using enzymatic assays on fetal cells.

    Conclusions:

    • Carnitine-acylcarnitine translocase deficiency is a serious inherited metabolic disorder with variable severity.
    • Prenatal diagnosis and genetic counseling are vital for families at risk.
    • Further research into the genetic basis and therapeutic strategies is warranted.