| 单词 | inborn error of metabolism |
| 释义 | inborn error of metabolism (once / 3939771 pages) n WORD FAMILY inborn error of metabolism USAGE EXAMPLES"We have sent the samples for a test called an inborn error of metabolism. We should get the result after 48 hours." BBC(May 26, 2016) n any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism Hypo|Hyper galactosemia a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth lysinemiaan inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation Niemann-Pick diseasea disorder of lipid metabolism that is inherited as an autosomal recessive trait PKU, phenylketonuriaa genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency metabolic disorder a disorder or defect of metabolism congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disordera disease or disorder that is inherited genetically |
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