Journal Article

Galactosemia Presenting as Recurrent Sepsis

Narendra Rathi and Akanksha Rathi

in Journal of Tropical Pediatrics

Volume 57, issue 6, pages 487-489
Published in print December 2011 | ISSN: 0142-6338
Published online February 2011 | e-ISSN: 1465-3664 | DOI: http://dx.doi.org/10.1093/tropej/fmr018
Galactosemia Presenting as Recurrent Sepsis

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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.

Keywords: galactosemia; recurrent sepsis; cataract; GALT

Journal Article.  1779 words. 

Subjects: Paediatrics

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