Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy
Schaub, J.; Remberger, K.; Endres, W.; Bremer, H.J.
Helvetica Paediatrica Acta 31(1): 67-76
1976
ISSN/ISBN: 0018-022X PMID: 939702 Document Number: 107319
In an infant with galactosemia high levels of galactose-1-phosphate in red blood cells and of blood galactose were observed under a "galactose-free'' diet. The child did not thrive and developed a liver cirrhosis. At the age of 5 months he died unexpectedly. Post mortem examination revealed in the pancreas and the small intestine changes suggestive of a cystic fibrosis. Since the exogenous administration of galactose by diet could be excluded the endogenous production of significant amounts of galactose-1-phosphate has to be considered.