Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy.
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.
D001344:Autopsy; D003550:Cystic Fibrosis / Q000150:complications* / Q000473:pathology; D004912:Erythrocytes / Q000378:metabolism; D005693:Galactosemias / Q000097:blood* / Q000150:complications / Q000178:diet therapy; D006801:Humans; D007223:Infant; D007583:Jejunum / Q000473:pathology; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications* / Q000473:pathology; D008297:Male; D010179:Pancreas / Q000473:pathology