Inborn Errors of Metabolism
Inborn Errors of Metabolism are the result of a single gene disorder as a result of defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they feed for the inability of childhood and an important part of the death. Most disorders are inherited as autosomal recessive while autosomal dominant and X-linked disorders are also present. Due to toxic substrate, product deficiency, or accumulation of both, clinical symptoms and symptoms arise. Based on the residual activity of low enzyme, the beginning of clinical photo may start from the infancy to adulthood. Hundreds of disorders have been described so far and there have been considerable clinical overlap between some innate errors. As a result of this fact, the definitive diagnosis of congenital errors depends on enzyme assays or genetic testing. Especially during recent years, important achievements have been achieved for the biological and genetic diagnosis of congenital errors. Techniques such as tandem mass spectrometry and gas chromatography for bio-chemical diagnosis and micro-organisms and the next generation sequencing for genetic diagnosis have enabled rapid diagnosis. Achievements for diagnosis also enabled neonatal screening and prenatal diagnosis. Parallel to the development of clinical methods; Significant progress has also been received for the treatment. Special diet like diet, enzyme replacement therapy, substrate obstruction, and organ transplantation are widely used. It is clear that with the help of preclinical and clinical research done for congenital errors, better diagnostic methods and better treatment approaches will be available.
Inborn Errors of Metabolism make a large range of genetic disorders, including birth defects of metabolism. The majority are due to single-gene defects, which are the codes for enzymes that facilitate converting various substances (substrates) into others (products). In most disorders, due to the accumulation of substances that are toxic or interfere in normal function, or are produced due to the effect of the ability to synthesize essential compounds. Inborn Errors of Metabolism are often known as congenital metabolic diseases or inherited metabolic disorder. The Inborn Errors of Metabolism was made in 1908 by the British physician Archibald Garod (1857-19 36). He is known for the work that predicts “a gene-enzyme enzyme” hypothesis based on his study on nature and heritage of Alkaptonuria. His original text, Inborn Errors of Metabolism, was published in 1923. Read More
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