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Deficiency of Biotinyl-AMP Synthetase Activity in Fibroblasts of Patients with Holocarboxylase Synthetase Deficiency

โœ Scribed by Jun Morita; Le Phuc Thuy; Lawrence Sweetman

Book ID
115639391
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
93 KB
Volume
64
Category
Article
ISSN
1096-7192

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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