DYSTROPHIES ASSOCIATED WITH AMINO ACID METABOLISM

Marupova Malikabonu Ixtiyorovna; Muxamedova S.N.,

DYSTROPHIES ASSOCIATED WITH AMINO ACID METABOLISM

Authors

Marupova Malikabonu Ixtiyorovna Faculty of Medical Pedagogy and Treatment, General Medicine program, Group 207.
Muxamedova S.N., Scientific supervisor Tashkent State Medical University, Department of Medical and Biological Chemistry, Medical Biology, Biophysics and Medical Informatics, Assistant, PhD.

Keywords:

Among these conditions, phenylketonuria, tyrosinemia, and cystinosis are of particular importance. In modern medicine, early detection and prevention of these disorders are critical, as delayed diagnosis can result in serious complications.

Abstract

Relevance. Dystrophies associated with amino acid metabolism arise due to inherited enzyme deficiencies, leading to the accumulation of toxic metabolites in the body and causing severe morphological changes in various organs and systems, especially in the central nervous system, liver, and kidneys.

DYSTROPHIES ASSOCIATED WITH AMINO ACID METABOLISM