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  Inborn Errors of Metabolism

Inborn Errors of Metabolism:

The word inborn errors of metabolism were coined by Garrod in the year 1908 for four rare hereditary diseases, cysteinuria, albinism, alkaptonuria, and pentosuria. Such types of diseases take place even during birth and so are inherited. Inherited errors of metabolism go ahead to inherited diseases.

The metabolism of our body has two main balanced activities. That is:

1. Anabolism (synthesis) and
2. Catabolism (degradation).

There is no matter whether the metabolic changes are endergonic or exergonic, most of them must be catalysed via enzymes. If one specific enzyme is deficient or not present then that goes ahead to a block in the pathway of biochemical reactions leading to metabolic abnormalities that are exist during the life and handed over to the progeny.

The nonexistence or deficiencies of an enzyme will origin an abnormal accumulation of the intermediate products of metabolism in the body and raised excretion in urine like such or their degradation products.A number of the intermediates could even be toxic.

For instance,

1057_inborn errors.jpg

In the above reaction R is the reactant, B, C and D are intermediates and P is the product and a, b, c and d are enzymes catalyzing several steps of the reactions. In this reaction pathway, if any one of the enzyme is deficient or not present, the preceding intermediate accumulates and generates toxicity. It as well influences the amount of product (P) formation that may be necessary biologically and there by leads to pathological diseases.

In a sequence of reactions an enzyme generally controls one step. Beadle and Tatum put forwards their theory of one gene one enzyme hypothesis that says that one gene controls the synthesis of a single enzyme. It is as well known that enzymes are being proteins, whose synthesis is governed via the DNA and aberrations of the enzyme protein will be absolutely brought about through mutations in the DNA. So, diseases because of absence or deficiency of enzymes are because of defective genes in DNA. Therefore, these hereditary or congenital diseases cannot be cured. The defective gene might be exists in the autosomal chromosomes/in the sex chromosomes.

Galactosemia, hemophilia, Von-Gierke’s disease, albinism, alkaptonuria and Tay-Sach’s disease are a few of the significant diseases because of inborn errors of metabolism.

 

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