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263 Possible Causes for 2 dehydrogenase, myo inositol

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  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    […] methyltransferase • Deficiency of mevaldate reductase • Deficiency of monodehydroascorbate reductase (NADH) • Deficiency of monooxygenase • Deficiency of mutase • Deficiency of myo-inositol[] 2-methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive disease characterized by an impairment in the degradation of isoleucine.[] Deficiency of mevaldate reductase Deficiency of mevalonate kinase Deficiency of monodehydroascorbate reductase Deficiency of monooxygenase Deficiency of mutase Deficiency of myo-inositol[]

  • 2-Hydroxyglutaric Aciduria

    MR spectroscopy shows a decrease in the neuronal marker N -acetylaspartate (NAA) and in choline, and an increase in the myo -inositol peaks ( 18 ).[] […] mutations in the d-2-hydroxyglutarate dehydrogenase gene cause d-2-hydroxyglutaric aciduria.[] Recent findings revealed that mutations in the D2HGDH gene, encoding D: -2-hydroxyglutarate dehydrogenase, cause D: -2-HGA.[]

  • Polycystic Ovary Syndrome

    A) or myo inositol and folic acid only (Group B), continuously for 6 months.[] Apparent cortisone reductase deficiency: a functional defect in 11β-hydroxysteroid dehydrogenase type 1 . J. Clin. Endocrinol. Metab. 84 , 3570–3574 (1999). 2.[] Of the 92 patients randomized, 47 received 400 mcg folic acid as placebo, and 45 received myo-inositol plus folic acid (4 g myo-inositol plus 400 mcg folic acid).[]

  • Chondrodysplasia with Joint Dislocations Type gPAPP

    )P3 Myo-inositol Pathway Diagram Inositol Phosphate Metabolism, Ins(1,3,4,5)P4 Ins(1,3,4)P3 Myo-inositol Pathway antibodies Inositol Phosphate Metabolism, Ins(1,3,4,5)P4 Ins[] Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia of infancy, leucine-sensitive ACADM ( MCAD) del Acyl-CoA dehydrogenase medium chain deficiency (ACADM) ACADVL ( VLCAD[] Pathway: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.[]

  • Sorbitol

    Myo-inositol is the primary biologically active form and is present in higher concentrations in the fetus and newborn than in adults.[] It is converted to fructose by sorbitol-6-phosphate 2-dehydrogenase.[] Inhibition of flux through this pathway can be blocked through inhibition of either of 2 enzymes, aldose reductase (AR) or sorbitol dehydrogenase (SDH).[]

  • Xanthinuria

    Progesterone Propentofylline PMAT Decynium-22 Enzyme ( inhibitors ) XO Allopurinol Amflutizole Benzbromarone Caffeic acid Cinnamaldehyde Cinnamomum osmophloeum Febuxostat Myo-inositol[] The distinction between the 2 types is based on the ability or inability to oxidize allopurinol, a substrate for xanthine dehydrogenase and aldehyde oxidase.[] Classic xanthinuria type I is the result of an isolated deficiency of xanthine dehydrogenase.[]

  • Gliomatosis Cerebri

    The primary conclusion is that in suspected cases of gliomatosis cerebri, myo-inositol/creatine and myo-inositol/N-acetyl should be determined because they may provide evidence[] Wiencke , DNA Methylation, Isocitrate Dehydrogenase Mutation, and Survival in Glioma , JNCI: Journal of the National Cancer Institute , 103 , 2 , (143) , (2011) . N.[] Abstract A patient with histologically proven gliomatosis cerebri presented with a normal choline level but a markedly abnormal elevated myo-inositol level on magnetic resonance[]

  • Succinic Acidemia

    Short-TE single-voxel spectra also showed elevated Lac and reduced NAA, with normal levels of other metabolites ( myo -inositol, glutamate, and glutamine) ( Fig 1B ).[] 2-ketoadipic dehydrogenase and glutaryl-CoA dehydrogenase to form glutaryl-CoA and crotonyl-CoA, respectively.[] Name Also Known As Disorders Beginning with a Number 2-Aminoadipic 2-Oxoadipic Aciduria AMOXAD/Adipic Aciduria 2-Methylbutyric Aciduria Short Branched-Chain acyl-CoA Dehydrogenase[]

  • Spinocerebellar Ataxia Type 1

    In addition, tNAA, myo-inositol, and glutamate levels in the cerebellar hemispheres and the tNAA and myo-inositol levels in the pons correlated with ataxia scores (Scale for[] 2 (GPD2), glucose-6-phosphate isomerase (GPI), alpha -: enolase (ENO1)], ATP synthesis [CS, Succinate dehydrogenase complex,subunit A (SDHA), ATP synthase subunit d, mitochondrial[] Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase [2] .[]

  • Bacillus Subtilis

    We manipulated the inositol metabolism in B. subtilis to permit the possible bioconversion from myo-inositol to scyllo-inositol.[] The last two genes, pdhA and odh , encode subunits of pyruvate and 2-oxoglutarate dehydrogenase, respectively; growth of the mutants could be restored by addition to LB of[] Table 1 Nonsilent Mutations Appearing in LC33 Relative to QB928 a COG Gene Product Type Mutation LC33 HR23 TR7-1 TR7-2 FI C nhaC Na /H antiporter MISSENSE Asp403Gly 3.95 E[]

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