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Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.

Abstract
Holocarboxylase synthetase (HCS) is responsible for the biotinylation of pyruvate carboxylase, propionyl coenzyme A (CoA) carboxylase, beta-methylcrotonoyl CoA carboxylase, and acetyl CoA carboxylase. We report on a patient with HCS deficiency resulting in a rare metabolic disease. The patient, a 2-year-old boy, presented with vomiting, consciousness disturbance, and dyspnea. Laboratory examinations showed hyperglycemia, hyperammonemia, lactic acidosis, and excretion of large amounts of beta-hydroxyisovalerate and beta-methylcrotonylglycine in the urine. After 10 days of treatment with biotin 5 mg.kg-1.day-1, the abnormal organic acids in his urine had almost completely disappeared. There were no subsequent attacks, and his growth and development remained normal during 1 year of follow-up. Nucleotide sequence analysis of the HCS cDNA of the patient revealed a homozygous 1809C-->T (R508W) mutation. The R508W mutation is found worldwide, and might be associated with higher residual HCS activity than other mutations. Late-onset HCS deficiency cannot be differentiated clinically from biotinidase deficiency. Prompt and correct diagnosis is important for these biotin-responsive disorders.
AuthorsW L Hwu, Y Suzuki, X Yang, X Li, S P Chou, K Narisawa, W Y Tsai
JournalJournal of the Formosan Medical Association = Taiwan yi zhi (J Formos Med Assoc) Vol. 99 Issue 2 Pg. 174-7 (Feb 2000) ISSN: 0929-6646 [Print] Singapore
PMID10770035 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Carbon-Nitrogen Ligases
  • holocarboxylase synthetases
Topics
  • Carbon-Nitrogen Ligases (deficiency, genetics)
  • Child, Preschool
  • Humans
  • Male
  • Mutation

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