Thiamine-responsive intermittent branched-chain ketoaciduria
Pueschel, S.M.; Bresnan, M.J.; Shih, V.E.; Levy, H.L.
Journal of Pediatrics 94(4): 628-631
1979
ISSN/ISBN: 0022-3476 PMID: 430308 Document Number: 153568
Aside from the classical type of branched-chain ketoaciduria, several variant forms have been identified and classified as intermittent, mild (ntermediate) and thiamine-responsive BCKA. Children with the intermittent form usually do not become symptomatic during the newborn period. In the presence of an increased protein intake or an exaggerated catabolic state due to an intercurrent illness, the branched-chain amino acids and their keto acid analogs may accumulate in large quantities and lead to lethargy, ataxia and vomiting. The report highlights clinical investigations, biochemical studies, and dietary management of a boy with the intermittent form of BCKA. The clinical information, as well as the special investigations described above, suggest that the patient has the intermittent form of BCKA, which is at least partially responsive to thiamine. The past medical history documents the intermittent nature of the patient's disorder. Acute intercurrent illnesses and increased protein intake led to neurologic impairment and increase in the branched-chain amino acid concentration. After the administration of thiamine hydrochloride, prompt clinical and biochemical improvement was observed.