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Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
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[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency]

Tong Wang1, Jun Ye, Lian-Shu Han

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

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|August 22, 2009
PubMed

Insights

Holocarboxylase synthetase (HCS) deficiency in children causes lethargy, acidosis, and skin issues. Early biotin treatment is effective, resolving symptoms and normalizing metabolites.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Context:

  • Holocarboxylase synthetase (HCS) deficiency is a rare metabolic disorder.
  • Early diagnosis and treatment are crucial for managing HCS deficiency.

Purpose:

  • To detail the clinical presentation, diagnostic methods, and treatment outcomes for children with HCS deficiency.
  • To identify the spectrum of HCS gene mutations in affected children.

Summary:

  • Eleven children with HCS deficiency presented with neurological and dermatological symptoms, alongside metabolic acidosis.
  • Diagnosis involved mass spectrometry and biotinidase activity assays, with HCS gene sequencing revealing mutations R508W and V363D as prevalent in Chinese children.
  • Ten patients responded well to biotin therapy, showing symptom resolution within weeks and normalization of metabolic markers within months.

Impact:

  • This study highlights the diagnostic utility of biochemical and genetic analyses for HCS deficiency.
  • It confirms the efficacy of early biotin intervention, improving clinical outcomes in affected children.
  • Identified common HCS gene mutations provide insights into the genetic landscape of the disorder in specific populations.
Abstract

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