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  • Title: Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.
    Author: Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI.
    Journal: J Pediatr; 1984 Jan; 104(1):65-9. PubMed ID: 6418873.
    Abstract:
    An 8-month-old boy with severe lactic acidosis was found to have lipoamide dehydrogenase deficiency. Treatment with thiamine, biotin, bicarbonate, protein restriction, and ketogenic diet failed to alleviate the lactic acidosis. Oral administration of lipoic acid 25 to 50 mg/kg produced dramatic improvement in lactic and pyruvic acidemia, which has continued for 2 years and which has been accompanied by clinical improvement.
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