Glutaric aciduria type 1
Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, , glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur.
Cheryl Rockman-GreenbergChromosome 19Clinic for Special ChildrenDentate nucleusGA1Global developmental delayGlutaconic acidGlutari aciduria1,2-dimethoxyethaanGlutaric acidemiaGlutaric acidemia IGlutaric acidemia type 1Glutaric acidemia type 2Glutaric acidemia type IGlutaric aciduriaGlutaric aciduria IGlutaryl-CoA dehydrogenaseGlutaryl-CoA dehydrogenase deficiencyInborn errors of metabolismKynurenineKynurenine pathwayList of diseases (G)List of disorders included in newborn screening programsList of genetic disordersLysineMacrocephalyNewborn screeningSydenham's chorea
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Glutaric aciduria type 1
Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, , glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur.
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Acyduria glutarowa typu I – zw ...... ylokoenzymu A w fibroblastach.
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Als Glutarazidurie oder Glutar ...... t zu den seltenen Krankheiten.
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Glutaaracidurie type 1 (of "gl ...... ia de Guthrie-test (hielprik).
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Glutaric acidemia type 1 is an ...... al retardation may also occur.
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La aciduria glutárica tipo I e ...... brazo corto del cromosoma 19.
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Η γλουταρική οξυουρία τύπου Ι ...... ίας, τομος 76, τεύχος 2, 2013)
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DiseasesDB
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997,517,815
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DiseasesDB
ICD
@en
E72.3
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name
Glutaric acidemia type 1
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OMIM
synonyms
Glutaric aciduria, GA1, GAT1
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Acyduria glutarowa typu I – zw ...... przemianach aminokwasu lizyny.
@pl
Als Glutarazidurie oder Glutar ...... t zu den seltenen Krankheiten.
@de
Glutaaracidurie type 1 (of "gl ...... ia de Guthrie-test (hielprik).
@nl
Glutaric acidemia type 1 is an ...... al retardation may also occur.
@en
La aciduria glutárica tipo I e ...... brazo corto del cromosoma 19.
@es
Η γλουταρική οξυουρία τύπου Ι ...... ίας, τομος 76, τεύχος 2, 2013)
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label
Aciduria glutárica tipo I
@es
Acyduria glutarowa typu I
@pl
Glutaaracidurie type 1
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Glutarazidurie
@de
Glutaric aciduria type 1
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Glutarsyreuri typ 1
@sv
Γλουταρική οξυουρία τύπου 1
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Glutaric acidemia type 1
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