inborn error of metabolism

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Related to Errors of metabolism: Metabolic diseases
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Noun1.inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
metabolic disorder - a disorder or defect of metabolism
galactosemia - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
lysinemia - an 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 disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait
phenylketonuria, PKU - a 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
References in periodicals archive ?
In its initial programs, Synlogic is developing Synthetic Biotic medicines for the treatment of inborn errors of metabolism such as UCDs and PKU.
Disorders such as Thalassemia, Hemophilia, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Fragile X, Inborn Errors of Metabolism, and Lysosomal Storage Disorders are just some frequently encountered genetic disorders, informed Dr.
Aldeyra Therapeutics a biotechnology company focused on the development of products for inflammation, inborn errors of metabolism, and other diseases, in the US and internationally.
Tenders are invited for Performing Biochemical tests and tests to detect Inborn Errors of Metabolism for all live births in Public Health Facilities.
Cambrooke Therapeutics works with physicians and researchers from around the world to develop, test and commercialise products that are focussed on inborn errors of metabolism and intractable epilepsy.
These deficiencies are referred to as inborn errors of metabolism.
Nestle Health Science's portfolio of nutrition solutions, diagnostics, devices, and drugs targets a number of health areas, such as inborn errors of metabolism, pediatric and acute care, obesity care, healthy aging as well as gastrointestinal and brain health.
Dipharma has strengthened its pipeline of improved formulations for the treatment of patients suffering from inborn errors of metabolism.
Selective screening for inborn errors of metabolism on clinicalpatients using tandem mass spectrometry in China: A four-year report.
Although its main cause is unknown, several factors have been discussed as a reason in its etiology, including inborn errors of metabolism.
Neonatal neuroimaging findings in inborn errors of metabolism.
10) Biochemical genetics was one of the first areas to take advantage of this technology for the analysis of neonatal dried blood spot samples for a range of inborn errors of metabolism.