TY - CHAP M1 - Book, Section TI - Chapter 148. Biotin Responsive Disorders A1 - Goodman, Stephen I. A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. PY - 2011 T2 - Rudolph's Pediatrics, 22e AB - Biotinidase releases biotin from the peptide form in which it usually exists in nature, and the free biotin is then available for attachment to apocarboxylases that act on propionyl-CoA, 3-methylcrotonyl-CoA, acetyl-CoA, and pyruvate by holocarboxylase synthetase. Deficiency of biotinidase or holocarboxylase synthetase produces multiple carboxylase deficiency; both conditions are characterized by the triad of alopecia, skin rash, and encephalopathy, and both are inherited as autosomal recessive traits. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6725833 ER -