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7 Possible Causes for Urine 2-Ketoglutarate Elevated

  • Amish Lethal Microcephaly

    When the infants are well, the urine organic acid profiles show isolated, extreme elevations of 2-ketoglutaric acid.[jhu.pure.elsevier.com] When the infants are well, the urine organic acid profiles show isolated, extreme elevations of 2-ketoglutaric acid. However, during otherwise… CONTINUE READING[semanticscholar.org]

  • Organic Aciduria

    Fumarase deficiency (fumarate) and 2-ketoglutarate dehydrogenase deficiency (2-ketoglutarate) are two examples.[web.archive.org] Disorders of the Krebs cycle can also cause neurologic symptoms, usually accompanied by metabolic acidosis with elevations of specific organic acids in urine.[web.archive.org]

  • Neonatal Adrenoleukodystrophy

    Biochemically, L-2-hydroxyglutaric aciduria presents with significantly elevated levels of L-2-hydroxyglutaric acid in the urine and CSF.[rarediseases.org] L-2 hydroxyglutarate dehydrogenase is an FAD-linked mitochondrial enzyme that converts L-2 hydroxyglutarate to a-ketoglutarate.[rarediseases.org]

  • Isovaleric Acidemia

    Fumarase deficiency (fumarate) and 2-ketoglutarate dehydrogenase deficiency (2-ketoglutarate) are two examples.[web.archive.org] Disorders of the Krebs cycle can also cause neurologic symptoms, usually accompanied by metabolic acidosis with elevations of specific organic acids in urine.[web.archive.org]

  • Mitochondrial DNA Depletion Syndrome

    , fumarate, and 2-ketoglutarate [ Carrozzo et al 2016 ].[ncbi.nlm.nih.gov] Plasma MMA level Elevation has been reported in all affected individuals analyzed, including those with marginally elevated urine MMA level [ Carrozzo et al 2016 ].[ncbi.nlm.nih.gov] Several other metabolites may be elevated in urine, including methylcitrate, 3-methylglutaconic acid, 3-hydroxyisovaleric acid, and Krebs cycle intermediates such as succinate[ncbi.nlm.nih.gov]

  • 2-Hydroxyglutaric Aciduria

    L-2-Hydroxyglutaric Aciduria L-2-HGA (L-2-Hydroxyglutaric Aciduria) in Staffordshire bull terriers is neurometabolic disorder characterised by elevated levels of L-2-hydroxyglutaric[staffbull.forumfree.it] […] acid in urine, plasma and cerebrospinal fluid.[staffbull.forumfree.it] L-2-hydroxyglutarate is normally metabolised to ketoglutarate but in affected dogs it is not, and builds up in the body with devastating results.[staffbull.forumfree.it]

  • Nonketotic Hyperglycinemia

    Fumarase deficiency (fumarate) and 2-ketoglutarate dehydrogenase deficiency (2-ketoglutarate) are two examples.[web.archive.org] Disorders of the Krebs cycle can also cause neurologic symptoms, usually accompanied by metabolic acidosis with elevations of specific organic acids in urine.[web.archive.org]

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