Pregled bibliografske jedinice broj: 346690
Neonatal multiple acyl-CoA dehydrogenase deficiency with moderatly decreased (9, 10-H)palmitate oxidation in fibroblasts.
Neonatal multiple acyl-CoA dehydrogenase deficiency with moderatly decreased (9, 10-H)palmitate oxidation in fibroblasts. // SSIEM 36th Annual Symposium
York, Ujedinjeno Kraljevstvo, 1998. (poster, nije recenziran, sažetak, ostalo)
CROSBI ID: 346690 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Neonatal multiple acyl-CoA dehydrogenase deficiency with moderatly decreased (9, 10-H)palmitate oxidation in fibroblasts.
Autori
Maradin, M ; Fumić, K ; Pešutić-Pisac, Valdi ; Stavljenić-Rukavina, Ana
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo
Skup
SSIEM 36th Annual Symposium
Mjesto i datum
York, Ujedinjeno Kraljevstvo, 01.09.1998. - 04.09.1998
Vrsta sudjelovanja
Poster
Vrsta recenzije
Nije recenziran
Ključne riječi
neonatal acyl-CoA dehydrogenase; deficiency; palmitat oxidation; fibroblasts
Sažetak
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a disorder due to inherited deficiency of mitochondrial electorn transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF:QO). There are two forms of the disease: mild ans severe. We report a boy with severe form.On the 2nd day of life he developed progressive metabolic acidosis, hypoglicemia, moderate hyperammoniemia and lactacidemia.Soon respiration became irregular, the boy developed coma and died on the 5th day of life.Analysis of b-oxidation in fibroblasts showed decreased oxidation of 9, 10-H myristate and only moderate decreased oxidation 9, 10-H palmitate.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Split
