Open AccessAn unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis
Author(s) -
Pooja Shashidhar Wali,
Preetham Tauro,
Pavan Hegde,
Habeeb Ullah Khan,
M D Jaidev
Publication year - 2021
Publication title -
karnataka paediatric journal
Language(s) - English
Resource type - Journals
ISSN - 0975-5152
DOI - 10.25259/kpj_6_2021
Subject(s) - biotinidase deficiency , metabolic acidosis , medicine , anion gap , acidosis , refractory (planetary science) , metabolic disorder , pediatrics , encephalopathy , endocrinology , newborn screening , biology , astrobiology
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.