Classical galactosaemia revisited

@article{Bosch2006ClassicalGR,
  title={Classical galactosaemia revisited},
  author={A. Bosch},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29},
  pages={516-525}
}
  • A. Bosch
  • Published 2006
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • SummaryClassical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712). Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. The gold standard for diagnosis of classical… CONTINUE READING
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