Top Abstract Purchase Preview Related
Home
>
Node
>
Subnode

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management

Stępień, K.M.; Roberts, M.; Hendriksz, C.J.

Developmental Period Medicine 19(4): 450-453

2015

ISSN/ISBN: 1428-345X
PMID: 26982752
Document Number: 17013
A 19-year old female patient presented with a two-year history of muscle pain and weakness before she was admitted to an acute medical ward with rhabdomyolysis (creatine kinase of 83,344 IU/L) and normal renal function tests. Following admission she was under the care of the rheumatology and neurology teams, which investigated her thoroughly. As part of the belt-and-braces approach, both teams contacted the specialist Adult Inherited Metabolic Disorders team for advice, instigating definitive diagnostic investigations. An accurate diagnosis was required, as an inherited metabolic disorders can present in adult patients as a milder form of the disease. Very-long-chain Acyl-CoA dehydrogenase (VLCAD) deficiency should always be considered as a differential diagnosis of myopathy-related symptoms. Hence, the liaison between neurologists, rheumatologists and metabolic physicians is essential in early diagnosis and the management of patients with conditions causing myopathy.

Document emailed within 1 workday
Secure & encrypted payments

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management

Hasegawa, Y.; Yamaguchi, S. 2002: Very-long-chain acyl-CoA dehydrogenase deficiency Nihon Rinsho. Japanese Journal of Clinical Medicine 60(Suppl 4): 717-721
Gregersen, N.; Winter, V.; Kølvraa, S.; Andresen, B.S.; Bross, P.; Blakemore, A.; Curtis, D.; Bolund, L. 1992: Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach Progress in Clinical and Biological Research 375: 441-452
Alluri, V.N.; Mulvihill, J.J. 2002: Medium chain acyl coenzyme a dehydrogenase (MCAD) deficiency: the case for screening all newborns Journal of the Oklahoma State Medical Association 95(5): 326-328
Tsai, M.Y.; Schwichtenberg, K.; Tuchman, M. 1993: Laboratory diagnosis of medium-chain acyl-coenzyme a dehydrogenase deficiency by the amplification refractory mutation system Clinical Chemistry 39(2): 280-283
Indo, Y.; Ozasa, H.; Ikeda, Y.; Tanaka, K. 1990: Molecular cloning and nucleotide sequence of cDNA encoding the rat long chain acyl-CoA dehydrogenase precursor Progress in Clinical and Biological Research 321: 633-636
Rhoades, E.; King, P. 2001: Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme a dehydrogenase deficiency (MCAD) Journal of the Oklahoma State Medical Association 94(4): 129-132
Wood, P.A.; Farmer, S.C.; Tolwani, R.J.; Warren, J.R.; Steinkampf, M.P.; Johnson, L.W.; Mountz, J.D.; Kelly, D.P. 1992: Molecular studies of mouse medium and long-chain acyl-CoA dehydrogenase genes for site-directed mutagenesis of embryonic stem cells Progress in Clinical and Biological Research 375: 151-160
Lecoq, I.; Mallet, E.; Bonté, J.B.; Laroche, D.; Travert, G. 1995: Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death Comptes Rendus des Seances de la Societe de Biologie et de ses Filiales 189(2): 295-301
Uchiyama, A.; Yamaguchi, S. 2002: Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency Nihon Rinsho. Japanese Journal of Clinical Medicine 60(Suppl 4): 730-733
Finocchiaro, G.; Ito, M.; Tanaka, K. 1988: Purification and properties of short-chain acyl-CoA, medium-chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver Advances in Neurology 48: 221-230
Frerman, F.E.; Turnbull, D. 1990: Interaction of medium chain acyl-CoA dehydrogenase with substrate and electron transfer flavoprotein Progress in Clinical and Biological Research 321: 79-89
Guffon, N.; Vianey-Saban, C.; Berthier, J.C.; Till, M.; Bertrand, C.; Divry, P.; Guibaud, P. 1993: Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings Pediatrie 48(5): 365-371
Real, L.M.; Gayoso, A.J.; Olivera, M.; Carúz, A.; Ruiz, A.; Gayoso, F. 2001: Detection of nucleotide c985 A-->G mutation of medium-chain acyl-CoA dehydrogenase gene by real-time PCR Clinical Chemistry 47(5): 958-959
Treem, W.R.; Shoup, M.E.; Hale, D.E.; Bennett, M.J.; Rinaldo, P.; Millington, D.S.; Stanley, C.A.; Riely, C.A.; Hyams, J.S. 1996: Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency American Journal of Gastroenterology 91(11): 2293-2300
Borutaĭte, V.I.; Mildazhene, V.I.; Ivanovene, L.I.; Kholodenko, B.N.; Toleĭkis, A.I.; Prashkiavichius, A.K. 1989: The role of long-chain acyl-CoA in the disturbances of oxidative phosphorylation in the myocardium Biokhimiia 54(12): 1947-1951
Yamada, J. 2003: Multiplicity of long-chain acyl-CoA hydrolase and its roles in lipid metabolism Seikagaku. Journal of Japanese Biochemical Society 75(11): 1456-1461
Kamiryo, T. 1981: Discovery of functionally distinct two long-chain acyl-coenzyme A synthetases and their roles in fatty acid metabolism Seikagaku. Journal of Japanese Biochemical Society 53(5): 303-317
Hori, K.; Tsuruo, T.; Tsukagoshi, S.; Sakurai, Y. 1984: Purification and characterization of an amidohydrolase for N4-long-chain fatty acyl derivatives of 1-beta-D-arabinofuranosylcytosine from mouse liver microsomes Cancer Research 44(3): 1187-1193
Han, Y.; Yang, Z.; Ding, X.; Yu, H.; Yi, Y. 2015: Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models Zhonghua Fu Chan Ke Za Zhi 50(10): 740-746
Jabłońska-Skwiecińska, E.; Rokicka-Milewska, R. 1988: Results of long-term observations of children with erythrocytic glucosephosphate dehydrogenase deficiency Polski Tygodnik Lekarski 43(18-19): 593-597