[Decompensated liver cirrhosis caused by galactosemia in a 52-year-old man].
A 52-year-old oligophrenic man hospitalized for esophageal hemorrhage had histologically proven liver cirrhosis and died from massive rehemorrhage. As a neonate he had survived severe jaundice, had had delayed psychomotor development and remained severely retarded. At age 15 years, bilateral cataracts had been excised and from 18 to 25 years he had had occasional grand mal seizures. The triad oligophrenia, liver cirrhosis and cataracts, prompted suspicion of galactosemia. Deficiency of galactose-1-phosphate uridyltransferase was demonstrated in blood and post mortem tissue. At autopsy, liver cirrhosis and esophageal varices were confirmed and unilateral chronic pyelonephritis, bilateral nephrolithiasis and testicular atrophy were found. There was not brain pathology. The patient appeared to be the oldest nondiagnosed galactosemic and the first male patient in whom hypogonadism was documented.
D005693:Galactosemias / Q000150:complications* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014166:Transferases / Q000378:metabolism
D014166:Transferases
Dekompensierte Leberzirrhose infolge Galaktosämie bei einem 52jährigen Mann.