Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid

Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoie acid 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 lipoie acid 25 to 50 mg/kg produced dramatic improvement in lactic and pyruvic acidemia, which has continued for 2 )'ears and which has been accompanied by clinical improvement. (J PEDI,4rR 104:65, 1984)

Reuben Matalon, M.D., Ph.D., David A. Stumpf, M.D., Kimberlee Michals, Ph.D., Robert D. Hart, M.D., Janice K. Parks, M.S., and Stephen I. Goodman, M.D. Chicago, IlL, and Denver, Colo.

LIPOAMIDE DEHYDROGENASE DEFICIENCY is an inborn error of metabolism that affects the activity of pyruvate, a-ketoglutarate, and the branched-chain ketoacid dehydrogenase complexes, resulting in primary lactic acidosis, z-~ The disease is rapidly progressive and leads to early death. Since the description of this enzyme defect by Robinson et al., 2 no effective therapy has been found. We describe L A D deficiency in a child who responded favorably to treatment with high orally administered doses of DL-a-lipoie acid. 4 CASE REPORT This white boy was born at full term, without complications, weighing 2.9 kg. in the neonatal period, he failed to gain weight and had episodes of vomiting and metabolic acidosis, tie was referred to the University of illinois Clinic at 8 months of age with a diagnosis of renal tubular acidosis. Physical examination at that time showed marked failure to thrive (weight 4.1 kg), hypotonia, small muscle mass, and severe head lag. A computed tomography scan of the head revealed moderate cerebral cortical atrophy, and brainstem auditory evoked responses showed a 40 db hearing loss on the left. Laboratory studies revealed persistent acidosis (p]l 7.0 to 7.2),

Froi~tthe University of illinois Medical Center and the University of Colorado Health Sciences Center School of Medicine. Reprint requests: Reuben Matalon, M.D., Ph.D., Department of pediatrics. University of Illinois llospital. 840 South Wood St., Chicago. IL 60612.

with a blood lactic acid concentration of 9.0 mmol/L (normal