Clinical Biochemical Genetics includes the diagnosis and management of inborn errors of metabolism, in which patients have enzyme deficiencies that is disturbed biochemical pathways involved in the metabolism of carbohydrates, amino acids and lipids. Examples of metabolic disorders: glycogen storage disease, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders. more
Biochemical Genetics - area of medicine dealing with the diagnosis and treatment inborn errors of metabolism, enzymatic deficiencies and biochemical mechanisms (carbohydrate, protein and fat metabolism, amino acids, etc.). Examples of such disorders can serve as galactosemia, glycogen metabolism, phenylketonuria and others.
Clinical Biochemical Genetics Uses the Modern biochemical methods (amino acid sequence analysis, studying enzyme kinetics, electrophoresis, chromatography, etc.). In addition, there are new genetic methods allowing isolate a discrete hereditary metabolic diseases. Successful study of primary biochemical defects led to the elucidation of the pathogenesis of many genetic diseases at the molecular level.
For many diseases the diagnosis is possible by not clinical or final determination of the metabolite, and on level primary a gene product, ie long before the formation of the clinical picture.
For example, Tay-Sachs disease diagnosed by the research activity of the enzyme hexosaminidase A intrauterinely, hemoglobinopathies - by the change the electrophoretic mobility at any stage of ontogenesis. On the basis of theoretical studies proposed a program of mass sample survey of the population (particularly neonates) for presumptive identification of inherited diseases of amino acid metabolism, carbohydrates, erythrocyte enzimopaty and other forms.