𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new case of holocarboxylase synthetase deficiency

✍ Scribed by P. Briones; A. Ribes; M. A. Vilaseca; G. Rodríguez-Valcárcel; L. P. Thuy; L. Sweetman

Publisher
Springer
Year
1989
Tongue
English
Weight
157 KB
Volume
12
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis and treatment of holo
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
✍ Le Phuc Thuy; John Belmont; William L. Nyhan 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 157 KB 👁 2 views

Holocarboxylase synthetase is one of two enzymes known to be involved in the metabolism of biotin. It catalyses the fixation of biotin to inactive apocarboxylases yielding active carboxylases. Deficiency of this enzyme leads to multiple carboxylase deficiency which is fatal in the absence of prompt

Reduced half-life of holocarboxylase syn
Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency
✍ Lisa M. Bailey; Ruby A. Ivanov; Sarawut Jitrapakdee; Callum J. Wilson; John C. W 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB

Multiple carboxylase deficiency is a clinical condition caused by defects in the enzymes involved in biotin metabolism, holocarboxylase synthetase (HLCS) or biotinidase. HLCS deficiency is a potentially fatal condition if left untreated, although the majority of patients respond to oral supplementat