An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis and Burkholderia cepacia sepsis


  • Ravi Sharma Department of Pediatrics and Intensive care, SDMH, Jaipur, Rajasthan, India
  • Anupam Chaturvedi Department of Pediatrics and Intensive care, SDMH, Jaipur, Rajasthan, India
  • Sandeep Yadav Department of Pediatrics and Intensive care, SDMH, Jaipur, Rajasthan, India
  • Rateesh Sareen Department of Pediatrics and Intensive care, SDMH, Jaipur, Rajasthan, India



Biotin, Biotinidase deficiency, Encephalopathy, High anion gap metabolic acidosis, Sepsis, Seizures


Biotinidase deficiency (BD) is an inborn metabolic disorder caused by low enzyme activity giving rise to impaired biotin release from dietary proteins. The first symptoms may be seen at first week following birth until 1 year of age. The goal of the therapy is to increase biotin bioavailability by daily 5-20 mg lifelong biotin replacement. Three-month-old girl born to nonconsanguineous parents, admitted to pediatric intensive care with multiple seizures, breathing difficulty and posturing. Blood investigations showed thrombocytopenia and high anion gap metabolic acidosis (HAGMA). Enzyme assay for biotinidase revealed low activities. Urinary organic acid analysis was normal. Enzyme activity is <10% in severe cases whereas between 10-30% in partial deficiency. BD can cause metabolic ketoacidosis, Hyperammonemia and organic Aciduria. BD behaves like immunodeficiency. Rarely bacterial infection can be seen. Treatment is lifelong biotin replacement.


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