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190 Possible Causes for Dihydrolipoyl Dehydrogenase Deficiency

  • Maple Syrup Urine Disease

    MSUD patients can be divided into 5 phenotypes: classic, intermediate, intermittent, thiamine-responsive, and dihydrolipoyl dehydrogenase (E3)-deficient depending on the clinical[mayomedicallaboratories.com] dehydrogenase deficiency [ A.-4.][jc-metabolomics.com] There are five different clinical variants of the genotype including: classic severe, intermittent, intermediate, thiamine-responsive form, and dihydrolipoyl dehydrogenase[ml.bethelks.edu]

  • Intermediate Maple Syrup Urine Disease

    Following what the name implies, giving large doses of thiamine together with a low protein diet will increase enzyme activity, breaking down the BCAAs. 5) Dihydrolipoyl dehydrogenase[maplesyrupstory.blogspot.com] MSUD patients can be divided into 5 phenotypes: classic, intermediate, intermittent, thiamine-responsive, and dihydrolipoyl dehydrogenase (E3)-deficient depending on the clinical[mayomedicallaboratories.com] dehydrogenase (E3)-deficient.[www4.utsouthwestern.edu]

  • Organic Aciduria

    .- Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.- 3-Hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators[bokus.com] dehydrogenase deficiency AR 24 21 ETFA Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 9 29 ETFB Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency[blueprintgenetics.com] 25 CTH Cystathioninuria AR 5 9 CUBN * Megaloblastic anemia-1, Finnish AR 37 52 D2HGDH D-2-hydroxyglutaric aciduria 1 AR 10 32 DBT Maple syrup urine disease AR 32 72 DLD Dihydrolipoyl[blueprintgenetics.com]

  • Tryptophanemia

    dehydrogenase deficiency [ A.-4.][jc-metabolomics.com] dehydrogenase (E3) deficiency, Dihydropyrimidinase deficiency, Endogenous sucrosuria, Ethyl malonic aciduria, Familial renal iminoglycinuria, Formiminoglutamic aciduria,[geno.ma] deficiency 3-Hydroxypropionic acid 90 PA Lactic acid 90 Dihydrolipoyl (E3) dehydrogenase deficiency Acetoacetic acid 102 0.1 β-ketothiolase deficiency (4) 2-Oxobutyric acid[google.com]

  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    dehydrogenase deficiency [ A.-4.][jc-metabolomics.com] Alkaptonuria Tada syndrome Encephalopathy due to hydroxykynureninuria Valinuria Hyperleucine-isoleucinuria Dihydrolipoyl dehydrogenase(E3) deficiency Beta-hydroxyisobutyryl[metascreen.com.my] dehydrogenase deficiency,ジヒドロリポイル脱水素酵素欠損症 [ K.-7.][jc-metabolomics.com]

  • Methylmalonic Acidemia with Homocystinuria

    dehydrogenase deficiency [ A.-4.][jc-metabolomics.com] dehydrogenase deficiency,ジヒドロリポイル脱水素酵素欠損症 [ K.-7.][jc-metabolomics.com] Gluconeogenesis disorders,糖新生系異常症 1. glucose-6-phosphatase deficiency,グルコース‐6‐フォスファターゼ欠損症 50 99% 2. fructose-1,6-diphosphatase deficiency,フルクトース‐1,6‐ジフォスファターゼ欠損症 50 99% 3.[jc-metabolomics.com]

  • Familial Recurrent Peripheral Facial Palsy

    disorder Glucosamine N-acetyl-6-sulfatase deficiency Glucose-galactose malabsorption Glucose transport disorder Glucose transporter type 1 deficiency Glucosidase 1 deficiency[orpha.net] […] anemia Glucagonoma Glucagonoma syndrome Glucocerebrosidase deficiency Glucocorticoid-remediable aldosteronism Glucocorticoid resistance Glucocorticoid-sensitive hypertension Gluconeogenesis[orpha.net]

  • Hyperalaninemia

    90 99% 5. thiamine-responsive pyruvate dehydrogenase deficiency 50 90% 6. defect in electron transport system 50 90% 7. dihydrolipoyl dehydrogenase deficiency [ A.-4.] 90[jc-metabolomics.com] dehydrogenase deficiency [ A.-4.][jc-metabolomics.com] Accuracy of chemical diagnosis is highly dependent on sampling time such as gluconeogenesis disorders (critical sample): J.-1 3. 50 90%、50 99% 8.[jc-metabolomics.com]

  • Hyperornithinemia

    Dihydrolipoyl dehydrogenase deficiency AR 36 21 ETFA Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency AR 8 29 ETFB Glutaric aciduria, Multiple acyl-CoA dehydrogenase[blueprintgenetics.com] dehydrogenase deficiency [ A.-4.][jc-metabolomics.com] AR 61 269 CPT1A Carnitine palmitoyltransferase deficiency AR 60 51 CPT2 Carnitine palmitoyltransferase II deficiency AR 72 111 DBT Maple syrup urine disease AR 39 75 DLD[blueprintgenetics.com]

  • Hyperglycinuria

    Alkaptonuria Tada syndrome Encephalopathy due to hydroxykynureninuria Valinuria Hyperleucine-isoleucinuria Dihydrolipoyl dehydrogenase(E3) deficiency Beta-hydroxyisobutyryl[metascreen.vn] Dihydrolipoyl dehydrogenase(E3) deficiency 44. Beta-hydroxyisobutyryl CoA deacylase deficiency 45. Histidinuria 46. Hartnup syndrome 47.[metascreen.com.hk] ) Citrullinuria type II (citrin deficiency) Argininosuccinic aciduria Argininuria Hypermethioninuria (MAT I/III deficiency) Homocystinuria cystathionine beta-synthase deficiency[metascreen.vn]

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