Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family
Tóm tắt
A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.
Tài liệu tham khảo
Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, DeVivo DC, Amir N (1995) Congenital lactic acidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. J Pediatr 126: 72–74.
Shaag A, Saada A, Berger I, et al (1999) Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 82: 177–182.