Article
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
Medical science monitor : international medical journal of experimental and clinical research - 1 Jan 2000
Cerna L, Wenchich L, Hansiková H, Kmoch S, Peskova K, Chrastina P, Brynda J, Zeman J
Abstract excerpt
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 <2.1; CSF-lactate 4.8...
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