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VLCADVery Long-Chain Acyl-CoA Dehydrogenase (inherited metabolic disease)
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The parents are first degree cousins who had lost 2 previous children, the first one at 3 days of age with sudden unexplained death at home and the second at the age of 2 months with confirmed hypoglycemia and cardiomyopathy that was proven to be VLCAD deficiency based on tandem mass spectrometry (TMS) results.
PCNA mRNA expression and mRNA expression of the PPAR[alpha] target genes VLCAD, MCAD, PH, and PT were increased with TRI exposure relative to controls in mPPAR[alpha] and hPPAR[alpha] mice, with more pronounced induction of PH and PT mRNA in mPPAR[alpha] mice.
The disorders tested in newborn screening include very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency, long-chain 3-hyroxy acyl-coenzyme A dehydrogense deficiency (LCHAD), medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency, and short-chain acyl-coenzyme A dehydrogenase (SCALD) deficiency.
El material biologico empleado en el presente estudio ha sido fibroblastos de 6 pacientes con deficiencia de VLCAD. Esta deficiencia fue confirmada por estudios enzimaticos, moleculares, o ambos.
Table 3 Comparison of gene expression profiles in specimens of Palaemonetes pugio exposed to chronic (moderate, 2.5 mg/l DO, 7.01 kPa; severe, 1.5 mg/l DO, 4.20 kPa) (a) or cyclic (1.5-8 mg/l DO, 4.20-22.42 kPa) hypoxia Chronic moderate Chronic severe Time point Upreg Downreg Upreg Downreg 3 days -- -- ATP syn-d -- ATP syn-f HcyI, II, III Ferritin 7 days -- HSP70 16S rRNA -- Ccoxl Heme BP Ferritin 14 days -- cMnSOD -- 16S rRNA Ccox1, 3 Cytb Ferritin Cyclic Time point Upreg Downreg 3 days mMnSOD HSP70 7 days Cmstapain rprot S2, S14 PEP Cbk VLCAD Sterol reductase ATP syn-d 14 days Vitellogenin -- Apoliprotein Cuticle protein (a) From Brouwer et al.
Commonly measured acylcarnitines and their associated disorders Analyte Disorder C0 free carnitine carnitine transporter deficiency C3 propionylcarnitine propionic and methylmalonic acidemia C4 butyrylcarnitine SCAD deficiency isobutyrlcarnitine isobutyryl dehydrogenase deficiency C5 isovalerylcarnitine isovaleric acidemia C5DC glutarylcarnitine glutaric aciduria type 1 C50H hydroxyglutarylcarnitine 3-methylcrotonylcarboxylase and 3-HMG CoA lyase deficiency C8 octanoylcarnitine MCAD deficiency C14:1 tetradecenoylcarnitine VLCAD deficiency C16 palmitoylcarnitine CPT II, carnitine translocase deficiency C180H hydroxyoctadecanoylcarnitine LCHAD, trifunctional protein deficiency Note: This list is not meant to be complete.
C14:1, another long-chain acylcarnitine, represents the metabolite most reliably indicative of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (75,108).
In January 2002, six more tests were added for the fatty acid oxidation disorders (MCAD, SCAD, LCAD and VLCAD) and two urea cycle disorders, arginosuccinic acidemia and citrullinemia.
A good example of this is Very Long Chain Acyl-CoA Dehydrogenase deficiency (VLCAD).