Document Type
Contribution to Books
Publication Date
2019
Publication Title
Biochemical Testing: Clinical Correlation and Diagnosis
Abstract
Inborn errors of metabolism (IEM) represent a group of inherited diseases in which genetic defect leads to the block on a metabolic pathway, resulting in a single enzyme dysfunction. As a downstream consequence of the residual or full loss of the enzymatic activity, there is an accumulation of toxic metabolites in the proximity of the metabolic block and/or a deficiency of an essential metabolic product which leads to the clinical presentation of the disease. While individually IEMs are rare, a collectively estimated incidence of metabolic inherited disorders is 1:800. The genetic basis of IEMs can involve abnormalities such as point mutations, deletions or insertions, or more complex genomic rearrangements. Categorization of IEM can be simply made on the basis of the affected metabolic network: fatty acids oxidation disorders, protein/amino acids metabolism disorders, disorders of carbohydrate metabolism, lysosomal storage diseases, peroxisomal disorders, and mitochondrial diseases. This chapter will overview amino acid metabolism-related inherited disorders and amino acid analysis for the diagnosis and routine monitoring of this category of IEMs.
Recommended Citation
Sandlers, Yana, "Amino Acids Profiling for the Diagnosis of Metabolic Disorders" (2019). Chemistry Faculty Publications. 552.
https://engagedscholarship.csuohio.edu/scichem_facpub/552
Creative Commons License
This work is licensed under a Creative Commons Attribution 3.0 License.
DOI
10.5772/intechopen.84672
Version
Publisher's PDF
