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Inborn Errors of Metabolism Map  


Inborn Errors of Metabolism Map

IUBMB - Nicholson

Every characteristic of human anatomy and physiology is determined by biochemical reactions catalysed by enzymes. These in turn are determined by our genetic make-up. If a gene is defective or missing it will result in a defective or missing enzyme—a so-called Inborn Error of Metabolism. In a pathway a + b + c + d, if the enzyme that converts c to d is defective, or missing, d cannot be made and c may accumulate so that abnormal concentrations may build up—perhaps in the blood or urine. Knowledge of the defective enzyme and its gene(s) may make possible the rational treatment of the resulting disease. The Inborn Errors of Metabolism map identifies the sites of over 40 such metabolic deficiency diseases which are named on the sides of the map.

The new edition of the Inborn Errors of Metabolism Map is now available!

Map GIF Version

Map Download PDF version

Enzyme Nomenclature

 

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