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Inborn errors of metabolism

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  1. Introduction and background
  2. Naturally occurring mutations
  3. The severity of an inborn error of metabolism
  4. Direct evidence for the genetic control of intestinal glucose transport
  5. Treatment of inherited disease
  6. Recommendations
  7. Bibliography

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.

[...] Inborn errors affecting proteins of the cytosolic compartment within a cell are the more "traditional" inborn errors of metabolism. They impair the catalytic reactions of anabolic or catabolic pathways and usually are classified by the class of biochemical involved. Classifications of disorders are of glucose, lipid fatty acid, amino acid, purine, organic acid, vitamin, and drug metabolism. Phenylalanine is essential for growth, and its anabolic products include tyrosine, thyroid hormone, adrenergic neurotransmitters, and melanin. Phenylketonuria (PKU) ( Chapter 217 ) is caused by mutations in the gene encoding phenylalanine hydroxylase, the first enzyme in this anabolic flow that catalyzes tyrosine production. [...]

[...] The phenotype (clinical outcome) also is affected not only by the specific genetic block, but also by alternate metabolic pathways (epigenetic phenomena) that may remove toxic precursors or supply deficient products of a blocked reaction. Outcome may be affected adversely by an alternate pathway, and a pathophysiologic mechanism may differ among organs. In galactosemia, the accumulation of galactose can produce excess intracellular galactitol through the alternate pathway catalyzed by aldose reductase and consequently cell death owing to the osmotic effect of intracellular galactitol. [...]

[...] Other examples of the benefit of preventive surgery for inborn errors include splenectomy for hemolytic anemias associated with spherocytosis, pyloroplasty in pyloric stenosis, and mastectomy and oophorectomy for patients with BRCA-1 or BRCA-2 mutations. Treatment of Inherited Disease Environmental engineering is the most commonly used approach to preventing disease in patients affected by inherited metabolic disease. The environment (nutritional intake, exposure to toxins, sun, stress, climatic variation, and drug therapy) may produce a disease state in individuals who have inherited single genes or polygenic susceptibility to specific environmental stress. [...]

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