Inborn errors of metabolism

inborn error of metabolismmetabolic disordercongenital metabolic diseasemetabolic diseasesenzyme deficiencyinborninborn errorinborn errorsmetabolic defectmetabolic disorders
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.wikipedia
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Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.
Most congenital metabolic disorders known as inborn errors of metabolism result from single-gene defects.

Archibald Garrod

Archibald Edward GarrodSir Archibald Edward GarrodSir Archibald Garrod
The term inborn errors of metabolism was coined by a British physician, Archibald Garrod (1857–1936), in 1908.
Sir Archibald Edward Garrod (25 November 1857 – 28 March 1936) was an English physician who pioneered the field of inborn errors of metabolism.

Birth defect

congenitalcongenital disorderbirth defects
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.
A congenital metabolic disease is also referred to as an inborn error of metabolism.

One gene–one enzyme hypothesis

one gene-one enzyme hypothesisone gene, one enzymeone gene-one enzyme" hypothesis
He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria.
Although some instances of errors in metabolism following Mendelian inheritance patterns were known earlier, beginning with the 1902 identification by Archibald Garrod of alkaptonuria as a Mendelian recessive trait, for the most part genetics could not be applied to metabolism through the late 1930s.

Newborn screening

neonatal screeningscreening of newbornsNewborn Screening Program
Dozens of congenital metabolic diseases are now detectable by newborn screening tests, especially the expanded testing using mass spectrometry.
The development of tandem mass spectrometry (MS/MS) screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that can be identified by characteristic patterns of amino acids and acylcarnitines.

Phenylketonuria

PKUphenylketonuria, maternalphenylketonurias
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.

Ferric chloride test

Ferric chloride (FeCl 3 ) testUse of ferric chloride (FeCl 3 ) test
The ferric chloride test can be used to detect metabolites in urine in case of inborn error of metabolism such as phenylketonuria.

Gas chromatography–mass spectrometry

GC-MSgas chromatography-mass spectrometryGC/MS
There is a revolutionary Gas chromatography–mass spectrometry-based technology with an integrated analytics system, which has now made it possible to test a newborn for over 100 mm genetic metabolic disorders.
Dozens of congenital metabolic diseases also known as inborn errors of metabolism (IEM) are now detectable by newborn screening tests, especially the testing using gas chromatography–mass spectrometry.

Glycogen storage disease

glycogenosisglycogen storage diseasesGSD
Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes.

Metabolism

metabolicmetabolizedmetabolic pathways
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

Gene

genesnumber of genesgene sequence
The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Enzyme

enzymologyenzymesenzymatic
The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Substrate (chemistry)

substratessubstratesubstrate specificity
The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Product (chemistry)

productsproductchemical products
The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Alkaptonuria

alkaptonuricsBlack Urine DiseaseIntervertebral disk calcification
He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria.

Carbohydrate

carbohydratessaccharidecomplex carbohydrates
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.

Organic acid

organic acidsorganicacid
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.

Lysosomal storage disease

lysosomal storage diseaseslysosomal storage disorderlysosomal storage disorders
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.

Amino acid

amino acidsresiduesresidue
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.