Distinct transcriptional regulation of long-chain acyl-CoA
synthetase isoforms and cytosolic thioesterase 1 in the rodent heart by fatty acids and insulin.
Hepatic mRNA levels of carnitine palmitoyltransferase 1A (CTP-1a) and acyl-CoA
dehydrogenase, very long chain (ACADVL) were also not different between bulls and steers.
4] Nonstandard abbreviations: IVA, isovaleric acidemia; CoA, coenzyme A; C5, isovalerylcarnitine; NBS, newborn screening; SBCADD, short/branched-chain acyl-CoA
dehydrogenase (2-methylbutyryl-CoA dehydrogenase) deficiency; PPV, positive predictive value; ESI-MS/MS, electrospray ionization-tandem mass spectrometry; C8, octanoylcarnitine; C4, butyrylcarnitine; C3, propionylcarnitine.
These effects were accompanied by enhanced hepatic gene expression of peroxisome proliferator-activated receptor (PPAR)-alpha, carnitine palmitoyltransferase-1 and acyl-CoA
oxidase (ACO), and reduced stearoyl-CoA desaturase-1.
The increased expression of stearoyl-CoA desaturase-1 (SCD-1) plays a key role in lipogenic gene expression and in metabolic syndrome, which coincides with marked elevations of lipoprotein lipase (Lpl, 33-fold) and cytosolic acyl-CoA
thioesterase-1 (Ctel, 5-fold) in arsenic-induced HCC.
As a result of this targeted partnership, MCADD was added to Georgia's series of Newborn Screenings because Georgia law (OCGA 31-12-6 & 31-12-7) and Rules and Regulations (Chapter 290-5-24) now require that every live born infant have an adequate blood test for nine treatable metabolic disorders (Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA
Dehydrogenase Deficiency) and for Sickle Cell disorders.
For a few of the disorders, such as Medium-Chain Acyl-CoA
Dehydrogenase deficiency (MCAD), the screening pattern is very specific and diagnosis is simplified; while for others, the elevations may be caused by more than one metabolic disorder.
When SARA was induced, acyl-CoA
synthetase (ACS) and cytochrome b5 involved in lipid metabolism were up-regulated, phosphoenolpyruvate carboxykinase (PEPCK) involved in glucose metabolism was downregulated, while enolase was up-regulated.
dehydrogenase deficiency (MCADD)  leads to the accumulation of octanoylcarnitine (C8) in the blood and can be diagnosed by analysis of the concentration of acylcarnitines by use of tandem mass spectrometry (MS/MS) (1).
The March of Dimes Pennsylvania Chapter is poised to introduce legislation that will add Homocystinuria, Biotinidase Deficiency, and Medium-Chain ACYL-COA
Dehydrogenase Deficiency (MCAD) to the newborn screening tests already offered in the state to bring Pennsylvania to the nine core metabolic tests recommended by the March of Dimes.
Differences in biological response were also supported by observed differences in clinical chemistry parameters and in the level of upregulation of two well-characterized markers of clofibrate exposure, namely, cytochrome P450 (CYP)4A1 and acyl-CoA
oxidase as measured on the Affymetrix platform.
The untargeted metabolomic analysis of serum, urine, liver and testes collected from EGME-treated rats revealed biochemical profiles similar to biochemical signatures observed in humans with multiple acyl-CoA
dehydrogenase deficiency (MADD), an inborn error of metabolism.