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[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency]

Y Yu1, L H Shen2, W J Qiu1

  • 1Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Xinhua Children's Hospital, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.

Zhonghua Yi Xue Za Zhi
|April 12, 2021
PubMed

Insights

Carnitine palmitoyltransferase 1A deficiency (CPT1A) diagnosis is improved by analyzing patient data and gene sequencing. Tandem mass spectrometry aids in early CPT1A screening and diagnosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare metabolic disorder.
  • Understanding CPT1A deficiency is crucial for early diagnosis and management.

Purpose of the Study:

  • To analyze clinical, biochemical, and genetic data of CPT1A deficiency patients.
  • To enhance the understanding of CPT1A deficiency.
  • To identify novel mutations in the CPT1A gene.

Main Methods:

  • Retrospective analysis of clinical and biochemical data from six CPT1A deficiency patients.
  • Gene sequencing of the CPT1A gene.
  • Tandem mass spectrometry for carnitine and acyl carnitine analysis.

Main Results:

  • Six patients (5 male, 1 female; aged 1-8 years) were included.
  • Two patients detected via neonatal screening were asymptomatic; four presented with seizures.
  • Biochemical analysis revealed increased serum free carnitine (C0) and decreased C16/C18, with elevated C0/(C16+C18).
  • All patients had compound heterozygous CPT1A mutations, including two known and ten novel mutations (6 missense, 1 nonsense, 1 deletion, 2 splicing).

Conclusions:

  • Tandem mass spectrometry is valuable for early screening and diagnosis of CPT1A deficiency.
  • Identification of novel CPT1A mutations expands the known mutation spectrum.
  • Comprehensive analysis improves understanding of CPT1A deficiency's clinical and genetic landscape.

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