Inborn errors of metabolism
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84 slides .ppt
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medical studies
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published 18/07/2007
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SummaryMetabolism is a collective term for integrated biochemical processes of the intact organism, differentiated organ, cell, and subcellular organelle.
Normal metabolism enables homeostasis for the organism by maintaining anabolic and catabolic flow of substrates to products. In the early 20th century, Garrod recognized heritable blocks in normal human metabolic flow that conformed to Mendelian mechanisms of inheritance.
He first coined the term inborn error of metabolism in his Croonian Lectures of 1908, in which he described four diseases—alkaptonuria, albinism, cystinuria, and pentosuria.
Garrod presumed that the patient expressing the full abnormality was homozygous for mutant alleles affecting a specific metabolic flow, whereas the parents were heterozygous for this same inherited block but were clinically normal.
Table of Contents
- Metabolism is a collective term for integrated biochemical processes of the intact organism
- The enzyme defect in alkaptonuria was not discovered until 50 years later
- There are many examples, including the insulin receptor, elastin, thyroid peroxidase, and tyrosine hydroxylase.
- One important clinical aspect in defining the genetic component of a metabolic disease is that one can predict, intervene in, and prevent irreversible pathology
- Many disorders are produced by mutant proteins that impair the transport of nutrients into cells.
- An insulin-responsive, facilitative glucose transporter (GLUT4) is not Na+ -dependent
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