Features of clinical manifestations and treatment of individual nosological forms of hereditary metabolic diseases

Abstract

We reviewed main clinical approaches to diagnostics and therapy of key life-threatening hereditary amino-acid metabolism diseases related to the group of organic acidurias, such as maple syrup urine disease (MSUD). Clinical-genetic forms of MSUD and characteristics of its clinical manifestations were described, as well as methods of diagnostics and treatment.

Keywords

• hereditary metabolic diseases
• organic aciduria
• diagnosis
• nutritional support
• treatment