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Abstract

An Unusual Presentation of Galactosemia in the Newborn: Liver Failure and Hyperammonemia

Galactosemia is an autosomal recessive inherited disease of the galactose metabolism developing depending on galactose-1-phosphate uridyl transferase deficiency. In this report, a newborn galactosemia case with abnormal presentation has been presented. Hepatic and renal functions of the infants diagnosed with ammonia increase in newborn or early infancy period should be revised rapidly and the treatment should be started immediately.


Author(s):

Nesrin C, Nihat D, Erdal P, Oguz T, Murat Dand Kaan D



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