Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

E. Holme, Jun Kudo, N. Shimizu, Y. Suzuki, O. Sakamoto, X. Li, Y. Aoki, M. Hiratsuka, K. Narisawa

研究成果: Article

17 引用 (Scopus)

抜粋

Holocarboxylase synthetase (HCS) deficiency is a disorder of biotin metabolism characterised by metabolic ketoacidosis and skin lesions due to reduced activities of multiple biotin-dependent carboxylases. The onset of this disease is usually between the neonatal and infantile period. Here we report the molecular analysis of an atypical case of HCS deficiency, where the patient developed his first episode of acidosis at age 8 years and had an exceptionally slow response to biotin therapy. A homozygous mutation was identified at the +5 position of the splice donor site in intron 10 of the HCS gene (IVs10 + 5(g → a)), resulting in abnormal splicing of HCS mRNA. A moderate decrease in the amount of normal HCS mRNA may account for the atypical, late-onset phenotype of this patient. Conclusion: Molecular analysis is a useful tool for understanding the phenotypic variations in holocarboxylase synthetase deficiency.

元の言語English
ページ(範囲)18-22
ページ数5
ジャーナルEuropean Journal of Pediatrics
159
発行部数1-2
出版物ステータスPublished - 2000

    フィンガープリント

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

これを引用

Holme, E., Kudo, J., Shimizu, N., Suzuki, Y., Sakamoto, O., Li, X., Aoki, Y., Hiratsuka, M., & Narisawa, K. (2000). Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. European Journal of Pediatrics, 159(1-2), 18-22.