Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Long-chain acyl-CoA dehydrogenase (LCAD) is one of four enzymes involved in the initial step of mitochondrial beta-oxidation of straight-chain fatty acids. It is a member of the acyl-CoA dehydrogenase (Acad or ACAD) gene family of enzymes, which also includes very-long-chain (VLCAD), medium-chain (MCAD), and short-chain (SCAD) acyl-CoA dehydrogenases. These enzymes all have similar activity but differ only in the chain length specificity for their substrate. Mitochondrial beta-oxidation provides an important source of energy especially during times of fasting. In order to understand the role of LCAD in this pathway, we have cloned and characterized the entire mouse (Mus musculus) gene encoding LCAD (Acadl). Acadl is a single-copy, nuclear encoded gene approximately 35 kb in size. We have sequenced the entire coding region, all intron/exon boundaries, 1.7 kb of its 5' regulatory region, and mapped the transcription start site. The gene contains 11 coding exons ranging in size from 67 bp to 275 bp, interrupted by 10 introns ranging in size from 1.0 kb to 6.6 kb in size. The Acadl 5' regulatory region, like other members of the Acad family, lacks a TATA or CAAT box and is GC rich. This region does contain multiple, putative cis-acting DNA elements recognized by either SP1 or members of the steroid-thyroid family of nuclear receptors, which has been shown with other members of the ACAD gene family to be important in regulated expression. The characterization of the mouse Acadl gene will allow further study of LCAD in an in vivo model, and how its expression may be coordinated with other members of the Acad gene family.
 ...
PMID:Structural characterization of the mouse long-chain acyl-CoA dehydrogenase gene and 5' regulatory region. 954 92

Seoul Clinical Laboratories began screening newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. The goal was to determine approximate prevalence of metabolic disorders and optimization of decision criteria for estimation of preventive effect with early diagnosis. Approximately 44,300 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2000 / 1:1250, 94.1 %, 99.7 %, and 0.04 %, respectively. Confirmed 35 multiple metabolic disorders (newborn/high risk) were as follows; 16 amino acid disorders [classical PKU(3/4), BH4 deficient-hyperphenylalaninemia(0/1), Citrullinemia(2/0), Homocystinuria(0/2), Hypermethioninemia(0/1), Tyrosinemia(1/0)], OTC deficiency (0/1), MSUD (2/0), 10 organic acidurias [Propionic aciduria(2/1), Methylmalonic aciduria(0/1), Isovaleric aciduria(2/1), 3-methylcrotonylglycineuria(1/0), Glutaric aciduria type 1(2/0)], 9 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def.(0/1), VLCAD def.(1/0), LC3KT def.(0/1), SCAD def (1/0), MADD def (0/1). The relatively normal development of 15 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochemical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.
 ...
PMID:Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea. 1590 13