Biochemical Genetics
The study of the relationship between genes and enzymes, specifically the role of genes in controlling the steps in biochemical pathways. Biochemical genetics is a consolidation of biochemistry and genetics. Biochemistry deals mostly with the structure and function of cellular components, such as proteins, carbohydrates, lipids, nucleic acids, and other biomolecules, and of their functions and transformations during life processes. Biochemical genetics is focused on the pathophysiology, diagnosis, and treatment of inborn errors of metabolism, which result in potentially toxic accumulation of substrate or secondary metabolites, and/or inhibition of reaction products. Early-onset metabolic disorders often present during infancy as acute, life-threatening illnesses other forms of inborn errors appear later in childhood .
- Fatty acid oxidation disorders
- Lysosomal storage disorders
- Mitochondrial disorders
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