A rare case of beta-ketothiolase deficiency in identical twins
Journal Title: Indian Journal of Child Health - Year 2017, Vol 4, Issue 4
Abstract
Betaketothiolase deficiency is a rare defect of isoleucine and ketone body metabolism which manifests as severe metabolic acidosis following common viral illnesses. A set of 1 year, 8 month-old identical male twins presented with similar symptoms in different time frames. Both of them had severe metabolic acidosis, hypoglycemia, and altered sensorium. Both twins tested positive for beta-ketothiolase deficiency by urine gas chromatography-mass spectrometry. The children responded to symptomatic treatment and are now growing well on a protein-restricted diet. Beta-ketothiolase deficiency is a rare disorder of amino acid metabolism with a favorable outcome if preventive measures are taken early.
Authors and Affiliations
Kavya Kurkal, D Narayanappa, H V Prajwala
Keywords
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