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[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up]

Lian-shu Han1, Jun Ye, Wen-juan Qiu

  • 1Department of Pediatric Endocrinologic and Genetic Metabolism, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|August 31, 2012
PubMed

Insights

Primary carnitine deficiency (PCD) was diagnosed in 17 children using tandem mass spectrometry and genetic testing. Carnitine treatment effectively resolved symptoms and normalized carnitine levels in most patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Context:

  • Low free carnitine levels are detected in children via tandem mass spectrometry.
  • These low levels can stem from malnutrition, metabolic disorders, or primary carnitine deficiency (PCD).

Purpose:

  • To discuss the diagnostic approaches for PCD.
  • To evaluate the therapeutic efficacy of carnitine in treating PCD.

Summary:

  • Tandem mass spectrometry identified 17 children with PCD from newborn screening and clinical cases.
  • Genetic mutations confirmed the diagnosis, revealing diverse clinical presentations from asymptomatic to severe organ involvement.
  • Carnitine treatment (100-300 mg/kg) led to symptom resolution and improved blood carnitine levels within 1-3 months.

Impact:

  • Establishes a diagnostic framework for PCD utilizing biochemical and genetic markers.
  • Demonstrates the significant therapeutic benefit of carnitine supplementation in PCD patients.
  • Highlights the importance of newborn screening for early detection and intervention of metabolic disorders like PCD.
Abstract

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