Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatomegaly and abnormal liver function can occur in nonmetastatic malignancies. A patient with metastatic prostatic adenocarcinoma that had spared the liver and extrahepatic biliary tree is described. He had puzzling episodes of jaundice for a period of 2 1/2 years. The results of appropriate investigations and an exploratory laparotomy performed dlring the patient's four antemortem hospitalizations were indicative of "recurrent intrahepatic cholestasis," the cause of which remained an enigma even after exploratory laparotomy. At autopsy, no evidence of hepatic metastases or extrahepatic biliary obstruction was found. Alcohol, hepatotoxic drugs, toxins, viral and chronic active hepatitis, hemolysis, and extrahepatic biliary obstruction were eliminated as causes of the jaundice. We believe that the intermittent intrahepatic cholestasis is one of the nonmetastatic manifestations (nonmetastatic hepatopathy of malignancy) of the prostatic adenocarcinoma.
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PMID:Intermittent cholestatic jaundice and nonmetastatic prostatic carcinoma. 92 51

Classic galactosemia is due to the deficiency of galactose-1-phosphate uridyl transferase and is transmitted as an autosomal recessive disorder. Patients suffering from classic galactosemia display acute symptoms such as poor growth, feeding difficulties, jaundice, hepatomegaly etc., which disappear when the individual is on galactose free diet. However, these patients continue to suffer from defects such as neurological disturbances and ovarian dysfunction, due to the accumulation of galactose-1-phosphate, which is a normal intermediate of galactose metabolism. The biochemical mechanism of galactose-1-phosphate mediated toxicity is still an enigma. Recent experiments strongly suggest that galactose-1-phosphate is also a substrate for inositol monophosphatase (IMPase). Phosphatidylinositol bisphosphate [PI(P)2] dependent signaling serves as a second messenger for several neurotransmitters in the brain. Therefore, the brain is critically dependent on IMPase for the supply of free inositol in order to sustain [PI(P)2] signaling. Circumstantial evidence strongly supports the possibility that being a substrate, galactose-1-phosphate could modulate IMPase function in vivo. The implication of this idea is discussed in relation to classic galactosemia as well as bipolar disorder, which has been thought to be due to the hyper-activation of [PI(P)2] mediated second messenger pathways(s).
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PMID:Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction? 1245 Jul 79