A rare case of beta-ketothiolase deficiency in identical twins

  • Kavya Kurkal
  • D Narayanappa
  • H V Prajwala


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.

Keywords: Beta-ketothiolase deficiency, Twins, Amino acid metabolism, Metabolic acidosis, Hypoglycemia
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How to Cite
Kurkal, K., Narayanappa, D., & Prajwala, H. (2017). A rare case of beta-ketothiolase deficiency in identical twins. Indian Journal of Child Health, 4(4), 639-640. Retrieved from https://atharvapub.net/IJCH/article/view/386
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