Inborn errors of metabolism
Summary :
Table of Contents
- Introduction and background
- Naturally occurring mutations
- The severity of an inborn error of metabolism
- Direct evidence for the genetic control of intestinal glucose transport
- Treatment of inherited disease
- Recommendations
- Bibliography
Abstract
metabolism 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.
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