Etude de certaines maladies métaboliques héréditaires

Abstract

Today, more than 500 hereditary metabolic diseases are estimated this figure explains the difficulties encountered in diagnosis and treatment. These diseases are divided into 3 groups: metabolic diseases by intoxication, diseases by energy deficit and diseases of complex molecules. These genetic and hereditary diseases are only deficits due to gene mutations mutations wish codes for a protein involved in various metabolic pathways, for example: deficits in the respiratory chain, carbohydrate metabolism, or even disturbances in the metabolism of complex molecules. A hereditary metabolic disease can manifest itself by abdominal pain, vomiting and high fever, visual disturbances, and neurological disorders, cardiac and even cutaneous abnormalities and may be accompanied by endocrine complications. They are rare but deserve to be known because most of them are treatable by the implementation of a specific adapted treatment. This is why better care for the patients concerned requires the efficiency of specialized biochemistry laboratories. Biochemical diagnoses are mainly based on assays of metabolites, measurements of enzymatic activities, on chromatography of blood and urinary amino acids and the profile of acylcarnitines and more rarely on the search for genetic mutations. Finally, the establishment of a specific adapted treatment is mandatory