TY - JOUR UR - https://doi.org/10.25259/KPJ_6_2021 DO - 10.25259/KPJ_6_2021 TI - An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis AU - Wali,Pooja Shashidhar AU - Tauro,Preetham AU - Hegde,Pavan AU - Khan,Habeeb Ullah AU - Jaidev,M. D AB - Biotinidase deficiency (BTD) is hereditary autosomal recessive disorder with higher morbidity and mortality if left untreated. We report this case to increase awareness about BTD, presenting with infantile seizures, encephalopathy with high anion gap metabolic acidosis, eczema and to emphasize the importance of early diagnosis in reversal of metabolic acidosis and seizures refractory to multiple anticonvulsants with biotin replacement. VL - 36 T2 - Karnataka Paediatric Journal JO - Karnataka Paediatric Journal J2 - Karnataka Paediatric Journal SN - 0975-5152 ER -