Medical Genetics 11单基因遗传病(B) Single gene disorder
Medical Genetics 11 单基因遗传病（B） Single Gene Disorder (B)
Medical Genetics 2 Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components
Medical Genetics 2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components
Medical Genetics In 1904 the doctor archibald e, garrod described alkaptonuria, a disease he classified as a lifelong congenital chemical alteration Later on in 1909 he described other diseases albinism, cystinuria, porphyria and pentosuria which he named Inborn Errors of metabolism" Garrod 's conclusions were completely correct in relation to the genetic basis of meta bolic disorders and the gene-enzyme concept 人La
Medical Genetics In 1904 the doctor Archibald E. Garrod described alkaptonuria, a disease he classified as a lifelong congenital chemical alteration. Later on, in 1909, he described other diseases: albinism, cystinuria, porphyria and pentosuria, which he named "Inborn Errors of Metabolism". Garrod's conclusions were completely correct in relation to the genetic basis of metabolic disorders and the gene-enzyme concept
Medical Genetics The gene defect can cause a particular enzyme to be defective or missing. And because the enzyme isn't doing what it is supposed to do for the body, poor health may result
Medical Genetics The gene defect can cause a particular enzyme to be defective or missing. And because the enzyme isn't doing what it is supposed to do for the body, poor health may result
Medical Genetics Simply put, enzymes help the body by stimulating biological reactions inside cells. Enzymes are proteins that help the body use food, produce energy, and do work. When a particular enzyme is defective or missing, then the body isn't able to do something that it should do to maintain health. The enzyme involved determines what the body can't do and what the resulting physical features are
Medical Genetics Simply put, enzymes help the body by stimulating biological reactions inside cells. Enzymes are proteins that help the body use food, produce energy, and do work. When a particular enzyme is defective or missing, then the body isn't able to do something that it should do to maintain health. The enzyme involved determines what the body can't do and what the resulting physical features are