𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case

✍ Scribed by A. Fuchshuber; T. Suormala; B. Roth; M. Duran; D. Michalk; E. R. Baumgartner


Publisher
Springer
Year
1993
Tongue
English
Weight
429 KB
Volume
152
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A new case of holocarboxylase synthetase
✍ P. Briones; A. Ribes; M. A. Vilaseca; G. RodrΓ­guez-ValcΓ‘rcel; L. P. Thuy; L. Swe πŸ“‚ Article πŸ“… 1989 πŸ› Springer 🌐 English βš– 157 KB
Prenatal diagnosis and treatment of holo
✍ Le Phuc Thuy; John Belmont; William L. Nyhan πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 157 KB πŸ‘ 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
✍ Lisa M. Bailey; Ruby A. Ivanov; Sarawut Jitrapakdee; Callum J. Wilson; John C. W πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 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