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Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency

Leona Cerna, Laszlo Wenchich, Hana Hansiková, Stanislav Kmoch, Karolina Peskova, Petr Chrastina, Jirí Brynda, Jirí Zeman

Med Sci Monit 2001; 7(6): CS1319-1325 :: ID: 508376


Background: Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare cause of primary lactic acidosis in infancy.
Material and methods: This article presents the results of biochemical and molecular analyses and metabolic response to treatment procedures in a 10-week old boy presenting with vomiting, progressive hypotonia, lactic acidosis (pH 7.04; BE – 20; B-lactate 6.6 mmol/l, controls Val, no important intermolecular interactions are broken and the reason for destabilization of the protein is not as clear.
Conclusion: The prognosis for children with DLD deficiency is unfavorable, although long-term normalization of most metabolites in body fluids may be achieved with the proper diet and the administration of sodium dichloroacetate.
Abbreviations: DLD – dihydrolipoamide dehydrogenase (E3), PDH – pyruvate dehydrogenase, COX – cytochrome c oxidase, CS – citrate synthase, CSF – cerebrospinal fluid, FAD – flavine adenine dinucleotide, BE – base excess, MCT – medium chain triglycerides, DCA – sodium dichloroacetate

Keywords: dihydrolipoamide dehydrogenase deficiency, lactic acidosis

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750