CLINICAL CASE OF BIOTINIDASE INSUFFICIENCY IN A CHILD OF AN EARLY AGE

Abstract

Hereditary metabolic diseases – monogenic disorders caused by mutations in genes encoding enzymes or other proteins involved in a particular metabolic process. For many forms of hereditary metabolic diseases were created specific treatment. That is why it catches a particular attention. Biotinidase deficiency is a disease caused by mutations in the gene encoding the biotinidase enzyme, which leads to disruption of all biotin-dependent carboxylases, and intracellular biotin deficiency. This disease is manifested by neurological and skin symptoms in children aged 1 to 6 months. The article provides an example of our own clinical observation of biotinidase deficiency in a young child.

Keywords

• биотинидаза
• биотин
• судорожный синдром у детей раннего возраста