Volume - 13 | Issue-1
Volume - 13 | Issue-1
Volume - 13 | Issue-1
Volume - 13 | Issue-1
Volume - 13 | Issue-1
Pyroglutamic acidemia or 5-oxiprolinemia is an under-recognized cause of high anion gap metabolic acidosis and increased excretion of pyroglutamic acid in urine which is a derangement of gamma- glutamyl cycle. Most common presentation would be vomiting, acidosis, increased anion metabolic acidosis. It is common in paediatric population with inherited autosomal recessive enzyme deficiencies. Here we report a case of 2- month-old female child presented with loose stools and vomiting since 4 days. Because of persistent metabolic acidosis a suspicion of IEM was made and GCMS TMS was sent which is suggestive of pyroglutamic acidemia and was further treated accordingly.