inborn error of metabolism

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Related to Errors of metabolism: Metabolic diseases

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Noun

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

congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited genetically

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

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References in periodicals archive ?

Inborn errors of metabolism (IEM)-an Indian perspective.

Prevalence of aminoacidurias in a Tertiary Care Pediatric Medical College Hospital

Although many inborn errors of metabolism (IEMs) are identified in infancy or early childhood, almost any IEM can present at any age, as illustrated in the case described by Jones.

Commentary

For those with inborn errors of metabolism (IEM), it can even be harmful!

Transcend disability make healthy decisions

Written by anesthesiologists from the US, the 28 chapters cover diseases of various body systems; inborn errors of metabolism; nutritional and infectious diseases; cancer; immune system dysfunction; fluid, electrolyte, and acid-base disorders; psychiatric disease, substance abuse, and drug overdose; pregnancy-associated diseases; and pediatric and geriatric disorders.

Handbook for Stoelting's anesthesia and co-existing disease, 4th ed. (online access included)

The real breakthrough in the screening for inborn errors of metabolism came in 1990 when a new technique of Tandem Mass Spectrometry (TMS) was introduced by Millington.

Newborn screening program for Oman: the time is here and now

Results: Various types of congenital inborn errors of metabolism formed the major part of liver diseases in the studied sample (41%), followed by various types of congenital familial intarhepatic cholestasis.

Etiology of chronic liver disease in Iraqi children, with special emphasis on the role of liver biopsy

ABU DHABI -- Health experts from across the globe have convened during the weekend for an intensive workshop and lectures tackling the importance of medical nutrition in the treatment in key diseases including cancer, diabetes, epilepsy, inborn errors of metabolism, faltering growth and allergy, and general malnutrition.

Workshop on medical nutrition

Unexplained jaundice in the neonatal period is a feature of the clinical presentation of inborn errors of metabolism in the neonatal period.

APRIL 2011 - Paediatric Neurology

Tandem mass spectrometry is a major technological advance in the screening for inborn errors of metabolism (IEM).

Investigation of inborn errors of metabolism by tandem mass spectrometry

"The future is bright for the Vitaflo business, its staff and Liverpool as a centre of excellence for the development of products for inborn errors of metabolism and disease related malnutrition."

MSIF WINDFALL IN VITAFLO BUYOUT

It presents information from the nursing core curriculum on reproduction and family health, family planning, the antepartum period, the intrapartum and postpartum periods, complications of pregnancy, high-risk conditions of pregnancy, menopause, sexually transmitted infections, and cancers, with pediatric information on diabetes mellitus, eye and ear disorders, gastrointestinal disorders, hematological disorders, rheumatic disease, HIV, inborn errors of metabolism, and disorders of the integumentary, liver, pancreas, neurological, muscular, orthopedic, renal and respiratory systems.

Obstetric and pediatric pathophysiology

Breakthroughs in technology, particularly the use of tandem mass spectrometry (MS/MS), have allowed for the development of fast and inexpensive protocols to quantify amino, organic, and fatty-acid metabolites as markers for inborn errors of metabolism on a scale amenable to population screening.