Tags

Type your tag names separated by a space and hit enter

Galactosemia presenting as recurrent sepsis.
J Trop Pediatr. 2011 Dec; 57(6):487-9.JT

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+Show Affiliations

Rathi Children Hospital and Maternity Home, Civil Lines, Akola, India. drnbrathi@hotmail.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21321007

Citation

Rathi, Narendra, and Akanksha Rathi. "Galactosemia Presenting as Recurrent Sepsis." Journal of Tropical Pediatrics, vol. 57, no. 6, 2011, pp. 487-9.
Rathi N, Rathi A. Galactosemia presenting as recurrent sepsis. J Trop Pediatr. 2011;57(6):487-9.
Rathi, N., & Rathi, A. (2011). Galactosemia presenting as recurrent sepsis. Journal of Tropical Pediatrics, 57(6), 487-9. https://doi.org/10.1093/tropej/fmr018
Rathi N, Rathi A. Galactosemia Presenting as Recurrent Sepsis. J Trop Pediatr. 2011;57(6):487-9. PubMed PMID: 21321007.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactosemia presenting as recurrent sepsis. AU - Rathi,Narendra, AU - Rathi,Akanksha, Y1 - 2011/02/14/ PY - 2011/2/16/entrez PY - 2011/2/16/pubmed PY - 2012/7/28/medline SP - 487 EP - 9 JF - Journal of tropical pediatrics JO - J Trop Pediatr VL - 57 IS - 6 N2 - 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. SN - 1465-3664 UR - https://www.unboundmedicine.com/medline/citation/21321007/Galactosemia_presenting_as_recurrent_sepsis_ L2 - https://academic.oup.com/tropej/article-lookup/doi/10.1093/tropej/fmr018 DB - PRIME DP - Unbound Medicine ER -