UNLABELLED: Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of conciousness being the only relevant clinical finding in the other. Organic acid-analysis revealed that ethylmalonate was constantly, although sometimes only slightly, increased. No abnormal acylglycines or acylcarnitines could be detected. Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. CONCLUSION: The lack of appropriate biochemical markers for this deficiency makes the diagnosis difficult and consequently, the low number of patients described may be the result of underdiagnosis.
UNLABELLED: Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of conciousness being the only relevant clinical finding in the other. Organic acid-analysis revealed that ethylmalonate was constantly, although sometimes only slightly, increased. No abnormal acylglycines or acylcarnitines could be detected. Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. CONCLUSION: The lack of appropriate biochemical markers for this deficiency makes the diagnosis difficult and consequently, the low number of patients described may be the result of underdiagnosis.
Authors: J Seidel; S Streck; K Bellstedt; C Vianey-Saban; C B Pedersen; J Vockley; H Korall; M Roskos; T Deufel; K F Trefz; A C Sewell; E Kauf; F Zintl; W Lehnert; N Gregersen Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982
Authors: Christina B Pedersen; Steen Kølvraa; Agnete Kølvraa; Vibeke Stenbroen; Margrethe Kjeldsen; Regina Ensenauer; Ingrid Tein; Dietrich Matern; Piero Rinaldo; Christine Vianey-Saban; Antonia Ribes; Willy Lehnert; Ernst Christensen; Thomas J Corydon; Brage S Andresen; Søren Vang; Lars Bolund; Jerry Vockley; Peter Bross; Niels Gregersen Journal: Hum Genet Date: 2008-06-04 Impact factor: 4.132
Authors: C Battisti; F Forte; M Molinelli; S Funghini; E Pasquini; M Tassini; M T Dotti; A Federico Journal: Neurol Sci Date: 2008-01-04 Impact factor: 3.307
Authors: Stuart G Beattie; Eric Goetzman; Thomas Conlon; Sean Germain; Glenn Walter; Martha Campbell-Thompson; Dietrich Matern; Jerry Vockley; Terence R Flotte Journal: Hum Gene Ther Date: 2008-06 Impact factor: 5.695