title: Galactosemia presenting as recurrent sepsis.
abstract: Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on slit lamp examination. To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.
authors.affiliation: Rathi Children Hospital and Maternity Home, Civil Lines, Akola, India. drnbrathi@hotmail.com
authors.forename: Narendra
authors.initials: N
authors.lastname: Rathi
authors.forename: Akanksha
authors.initials: A
authors.lastname: Rathi
mesh_terms: D004927:Escherichia coli Infections / Q000175:diagnosis / Q000209:etiology*; D005693:Galactosemias / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012008:Recurrence; D018805:Sepsis / Q000175:diagnosis / Q000209:etiology*