Abstract
A 2 1/2-year-old white boy with normal psychomotor development was noted to have intermittent episodes of ataxia, lethargy and vomiting associated with intercurrent illnesses. Initial urine amino acid chromatographic screening revealed a marked increase of leucine, isoleucine and valine suggesting a disturbance in the branched-chain amino acid metabolism.
During subsequent investigations challenge studies with L-leucine (50 mg/kg), once with additional thiamine hydrochloride (10 mg) and once without thiamine hydrochloride indicated that the latter compound enhances the oxidative decarboxylation of the keto acids.
In order to find the most suitable diet for the patient he was given a protein intake that was low (1.5 gm/kg/day), medium (3.0 gm/kg/day) and high (4.5 gm/kg/day) at three separate time periods. Biochemical and clinical parameters revealed that the diets with low and medium protein content were fairly well tolerated; however, while on a high protein diet the patient became symptomatic and a marked increase in branched-chain amino acid was observed.
Enzyme studies revealed 10% of normal branched-chain decarboxylase activity.
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Pueschel, S., Bresnan, M., Levy, H. et al. THIAMINE RESPONSIVE INTERMITTENT BRANCHED-CHAIN KETOACIDURIA. Pediatr Res 11, 462 (1977). https://doi.org/10.1203/00006450-197704000-00553
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DOI: https://doi.org/10.1203/00006450-197704000-00553