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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
C A Stanley1, S DeLeeuw, P M Coates
1Division of Endocrinology/Diabetes, Children's Hospital of Philadelphia, PA 19104.
Insights
Severe carnitine deficiency in children results from impaired carnitine uptake. Early diagnosis and high-dose oral carnitine treatment are crucial for managing this fatty acid oxidation disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Carnitine deficiency can stem from impaired intracellular carnitine uptake.
- Understanding the clinical spectrum of this disorder is essential for timely intervention.
Observation:
- Fifteen infants and children with carnitine uptake defects were studied.
- Clinical presentations included progressive cardiomyopathy, muscle weakness, and episodes of fasting hypoglycemia.
Findings:
- A defect in carnitine uptake was confirmed in patient fibroblasts and leukocytes, and also observed in muscle and kidney.
- Intermediate carnitine levels and uptake rates in parents suggest recessive inheritance.
Implications:
- Early identification of carnitine uptake defects is vital for preventing severe complications like cardiomyopathy.
- High-dose oral carnitine supplementation can be a life-saving treatment for this metabolic disorder.
Abstract:
A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscle weakness, was the most common presentation (median age of onset, 3 years). Other patients presented with episodes of fasting hypoglycemia during the first 2 years of life before cardiomyopathy had become apparent. A defect in carnitine uptake was demonstrable in fibroblasts and leukocytes from patients. The defect also appears to be expressed in muscle and kidney. Concentrations of plasma carnitine and rates of carnitine uptake in parents were intermediate between affected patients and normal control subjects, consistent with recessive inheritance. Early recognition and treatment with high doses of oral carnitine may be life-saving in this disorder of fatty acid oxidation.