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Malattie Metaboliche Ereditarie |
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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!
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AISMME Associazione Italiana Sostegno Malattie Metaboliche Ereditarie Onlus © 2005-2010 |