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10,490 Possible Causes for DEFICIENCY,, GLU474GLN, LCHAD

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    The Glu474Gln mutation and other amino acid substitutions likely to alter the structure of the alpha subunit, preventing normal operation.[] Mutations in the HADHA gene cause LCHAD deficiency .[] trifunctional protein deficiencies.[]

  • Mitochondrial Trifunctional Protein Deficiency

    This mutation is written as Glu474Gln or E474Q.[] Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis . 2005. 28(4):533-44. [Medline] .[] Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain[]

  • Acute Fatty Liver of Pregnancy

    None had the Glu474Gln mutation, and none of their mothers had liver disease during pregnancy.[] We emphasize that screening for fatty acid oxidation disorders and specifically LCHAD deficiency should be performed in newborns from mothers with hepatic complications during[] Other beta-oxidation defects, in addition to LCHAD deficiency, should be considered in children born after pregnancies complicated by liver disease.[]

  • Malignant Neoplasm

    […] the highest mutation frequencies among the single nullizygous mice seen in the Mlh1 -deficient and Msh2 -deficient mice, and the least in the Msh3 -deficient mice.[] In addition, the mutation frequency in the Msh2 -deficient mice studied by Andrew et al.[] Laboratory findings showed no abnormalities, except for a slightly elevated C-reactive protein value and iron deficiency anemia.[]

    Missing: GLU474GLN LCHAD
  • Influenza

    […] or RS cells, thus indicating that the LCHAD enzyme is the target for such inhibition. 22 A biological difference between control and Reye syndrome cells?[] Vitamin D deficiency predisposes children to respiratory infections.[] Vitamin D deficiency in children with recurrent respiratory infections, with or without immunoglobulin deficiency .[]

    Missing: GLU474GLN
  • Short Chain Acyl CoA Dehydrogenase Deficiency

    trifunctional protein deficiency Short chain acyl-coa dehydrogenase deficiency Trifunctional protein deficiency Very long chain acyl-coa dehydrogenase deficiency 277.85 Excludes[] ACADS deficiency deficiency of butyryl-CoA dehydrogenase lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency SCAD deficiency SCADH deficiency[] […] to fibroblasts from patients with carnitine palmitoyltransferase 2 (CPT2) (n   5), mitochondrial trifunctional protein (MTP)/long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD[]

    Missing: GLU474GLN
  • Carnitine Transporter Deficiency

    In addition, patients with long-chain 3-hyroxyacyl-CoA dehydrogenase (LCHAD) deficiency and VLCAD deficiency are more prone to cardiomyopathies and may also require less physical[] […] cardiomyopathy may be the presenting syndrome in patients with secondary carnitine deficiency caused by defects in beta-oxidation, such as long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD[] […] fatty acid oxidation defects such as very long chain acyl-CoA dehydrogenase (VLCAD), medium-chain acyl-CoA dehydrogense (MCAD), long-chain hydroxyacyl-CoA dehydrogenase (LCHAD[]

    Missing: GLU474GLN
  • Late-Onset Carnitine Palmitoyl Transferase II Deficiency

    277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD[] CPT II deficiency CPT2 deficiency Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C, Angelini C.[] : CPT1A-Defizienz CPT2-Defizienz MCAD-Defizienz VLCAD-Defizienz LCHAD-Defizienz HADH-Defizienz Ketonkörperbiosynthese: HMG-CoA-Synthase-2-Defizienz DD Myopathie [ Bearbeiten[]

    Missing: GLU474GLN
  • Severe Infantile Carnitine Palmitoyl Transferase II Deficiency

    277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD[] With suspicion of a CPT2 deficiency, biochemical CPT2 assay showed a marked CPT deficiency (isotope, 43.8 pmol/min/mg [normal value, 452 160 pmol/min/mg]; forward, 137 pmol[] LCHAD deficiency occurs as an isolated defect (described here) or together with deficiency of the other 2 enzymes in Mitochondrial Trifunctional Protein deficiency.[]

    Missing: GLU474GLN
  • Recurrent Jaundice of Pregnancy

    Several mutations of this enzyme have been associated with AFLP and HELLP syndrome, the most common of which is substitution of glutamine for glutamate at residue 474 (Glu474Gln[] All 15 pregnancies with maternal liver disease were associated with fetal LCHAD deficiency.[] The most common disorder of fatty acid oxidation disorder in AFLP is a deficiency of long-chain 3-hydroxylacyl-CoA dehydrogenase (LCHAD).[]

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