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20 Possible Causes for Alpha-Ketoglutarate Elevated

  • Amish Lethal Microcephaly

    Elevated alpha-ketoglutarate may be seen in other disorders as well. Microcephaly.[ncbi.nlm.nih.gov] A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated[ghr.nlm.nih.gov] Urine levels of alpha-ketoglutaric acid were normal at birth and during metabolic crisis, but were markedly elevated during a time of metabolic stability.[ir.lib.uwo.ca]

  • Hyperalaninemia

    A proposed block in beta-alanine-alpha-ketoglutarate transaminase would expand the free beta-alanine pool, thus increasing tissue carnosine. beta-Alanine is a central-nervous-system[unboundmedicine.com] Post-mortem tissues had elevated levels of beta-alanine and carnosine; GABA levels in brain were probably elevated for the age of the patient.[unboundmedicine.com]

  • Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

    Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate.[genecards.org] Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors.[uniprot.org] Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate.[genecards.org]

  • Pyruvate Carboxylase Deficiency

    Hyperammonemia will be present (normal Urine organic acid analysis will show elevations of lactate, pyruvate, beta-hydroxybutyrate, and alpha-ketoglutarate.[clinicaladvisor.com] Cerebral spinal fluid (CSF) analysis will also show an elevated lactate, pyruvate, alanine, and glutamine. ( Table 1 ) Table 1.[clinicaladvisor.com] Plasma amino acid analysis will demonstrate an elevated citrulline, unique for a lactic acidosis, with elevations of alanine, proline, and lsyine.[clinicaladvisor.com]

  • Congenital Lactic Acidosis

    In addition to elevated lactate and pyruvate levels, the data revealed increased urinary excretion of alpha-ketoglutarate, alpha-ketoadipate, and branched chain ketoacids,[ncbi.nlm.nih.gov]

  • Aminoaciduria

    A proposed block in beta-alanine-alpha-ketoglutarate transaminase would expand the free beta-alanine pool, thus increasing tissue carnosine. beta-Alanine is a central-nervous-system[ncbi.nlm.nih.gov] Post-mortem tissues had elevated levels of beta-alanine and carnosine; GABA levels in brain were probably elevated for the age of the patient.[ncbi.nlm.nih.gov]

  • Succinic Acidemia

    An analog of the Krebs cycle compound 2-oxoglutaric (alpha-ketoglutaric) acid.[drweyrich.weyrich.com] Suggests dysbiosis. 3-oxoglutaric Acid Slightly elevated values are found in autism and other disorders.[drweyrich.weyrich.com] Elevated 3-oxoglutaric acid may correlate with low 2-oxoglutaric acid, possibly indicating an interference with 3-oxoglutaric acid in the Krebs cycle.[drweyrich.weyrich.com]

  • Maple Syrup Urine Disease

    […] by increased urinary excretion of BCKAs and alpha-ketoglutarate accompanied by elevated plasma concentrations of lactate, pyruvate, and alanine ( Table 2 ).[ncbi.nlm.nih.gov] Mutations in E3 cause deficiencies of alpha-ketoglutarate dyhydrogenases and pyruvate. There have been no reports of mutations in the regulatory enzymes.[disabled-world.com] Note: The E3 subunit (lipoamide dehydrogenase encoded by DLD ) of BCKAD is shared with the pyruvate and alpha-ketoglutarate dehydrogenase complexes, and MSUD type 3 is characterized[ncbi.nlm.nih.gov]

  • Classic Maple Syrup Urine Disease

    In a murine model of MSUD, leucine and aKIC accumulation in brain tissue is accompanied by depletion of glutamate, GABA, pyruvate, and dopamine, while alpha-ketoglutarate,[flipper.diff.org] Mutations in E3 cause deficiencies of alpha-ketoglutarate dyhydrogenases and pyruvate. There have been no reports of mutations in the regulatory enzymes.[disabled-world.com] Cerebral lactate is elevated in humans with acute MSUD encephalopathy and may be related to reversible inhibition of the respiratory chain by elevated cerebral alpha-ketoisocaproic[flipper.diff.org]

  • Intermittent Maple Syrup Urine Disease

    In a murine model of MSUD, leucine and aKIC accumulation in brain tissue is accompanied by depletion of glutamate, GABA, pyruvate, and dopamine, while alpha-ketoglutarate,[flipper.diff.org] Mutations in E3 cause deficiencies of alpha-ketoglutarate dyhydrogenases and pyruvate. There have been no reports of mutations in the regulatory enzymes.[disabled-world.com] Cerebral lactate is elevated in humans with acute MSUD encephalopathy and may be related to reversible inhibition of the respiratory chain by elevated cerebral alpha-ketoisocaproic[flipper.diff.org]

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