Baumgartner, M R; Suormala, T (2012). Biotin-responsive disorders. In: Saudubray, J M; van den Berghe, G; Walter, J H. Inborn metabolic diseases: diagnosis and treatment (5th ed.). Berlin, DE, 375-384. ISBN 978-3-642-15719-6 (P) 978-3-642-15720-2 (E).
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Two inherited defects affecting the coenzyme function of biotin are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotin-dependent carboxylases, i.e. to multiple carboxylase deficiency (MCD). In HCS deficiency, the binding of biotin to apocarboxylases is impaired. In biotinidase deficiency, biotin depletion ensues from the inability to recycle endogenous biotin and to utilise protein-bound biotin from the diet. As the carboxylases play an essential role in the catabolism of several amino acids, in gluconeogenesis and in fatty-acid synthesis, their deficiency provokes multiple, life-threatening metabolic derangements, eliciting characteristic organic aciduria and neurological symptoms. The clinical presentation is extremely variable in both disorders. Characteristic symptoms include metabolic acidosis, hypotonia, seizures, ataxia, impaired consciousness and cutaneous symptoms, such as skin rash and alopecia.
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|Item Type:||Book Section, refereed, further contribution|
|Communities & Collections:||04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Center for Integrative Human Physiology
|DDC:||570 Life sciences; biology
610 Medicine & health
|Deposited On:||11 Mar 2012 18:01|
|Last Modified:||04 Apr 2012 14:22|
|ISBN:||978-3-642-15719-6 (P) 978-3-642-15720-2 (E)|
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