"The fumarase enzyme is released from cells when they are damaged from the outside.
If this functions, then we can in principle move directly to clinical practice with fumarase measurements," explains Per Mose Nielsen.
Fumarase deficiency is inherited in an autosomal recessive pattern.
Most newborns with fumarase deficiency display serious neurological anomalies including feeding difficulty, developmental retardation and hypotonia.
Enlarged brain ventricles and polyhydramniosis in the intrauterine follow-up of patients presenting with seizure, hypo or hypertonicity (opistotunus), microcephaly and growth retardation should suggest fumarase deficiency which is observed rarely.
Lung Activity Filtered air CAPs Cu/ZnSOD (U/mg protein) 38 [+ or -] 7 38 [+ or -] 10 MnSOD (U/mg protein) 6 [+ or -] 3 10 [+ or -] 2 * Catalase (mU/mg protein) 43 [+ or -] 4 55 [+ or -] 5 * Fumarase
(U/mg protein) 0.17 [+ or -] 0.01 0.19 [+ or -] 0.01 Heart Activity Filtered air CAPs Cu/ZnSOD (U/mg protein) 170 [+ or -] 20 340 [+ or -] 60 * MnSOD (U/mg protein) 11 [+ or -] 1 15 [+ or -] 2 * Catalase (mU/mg protein) 0.28 [+ or -] 0.03 0.34 [+ or -] 0.02 Fumarase
(U/mg protein) 1.7 [+ or -] 0.1 1.8 [+ or -] 0.1 Values indicate mean [+ or -] SE (n = 10).
MmcBC in Pelotomaculum thermopropionicum represents a novel group of prokaryotic fumarases
. FEMS Microbiol.
Taylor, said the last time she checked with her daughter's doctor she was told there are fewer than 100 cases of fumarase deficiency worldwide.
She said most children who have fumarase deficiency succumb to the disease before their first birthday.
Incubation 6 measures the TCA cycle activity except for SDH and fumarase. Disturbances in PDHc, TCA cycle (except SDH and fumarase), OXPHOS, and ANT will produce a decreased oxidation rate in incubation 6.
Because [U-[sup.14]C]malate oxidation rates are independent of SDH and fumarase (Fig.
A total of 16 enzyme systems were successfully assayed, namely, adenylate kinase, aldolase, esterase, fumarase
, glutamate-oxalo-acetate transaminase, [Alpha]-glycerophosphate dehydrogenase, hexokinase, hydroxybutyrate dehydrogenase, isocitrate dehydrogenase, lactate dehydrogenase, malate dehydrogenase, malic enzyme, phosphoglucomutase, 6-phosphogluconate dehydrogenase, phosphoglucose isomerase, superoxide dimutase and triosephosphate isomerase (Saura et al.