𝔖 Bobbio Scriptorium
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Holocarboxylase Synthetase Deficiency Presenting as Ichthyosis

✍ Scribed by H. Alan Arbuckle; Joseph Morelli

Book ID
109090128
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
44 KB
Volume
23
Category
Article
ISSN
0736-8046

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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