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(Hepatomegaly)
11,167 results
  • GeneReviews® [BOOK]
  • BOOKUniversity of Washington, Seattle: Seattle (WA)
  • Adam MP, Ardinger HH, … Amemiya ADe Gobbi M, Roetto A
  • TFR2 -related hereditary hemochromatosis (TFR2-HHC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrin...
  • Long-term liver disease in methylmalonic and propionic acidemias. [Journal Article]
  • MGMol Genet Metab 2018 Feb 07
  • Imbard A, Garcia Segarra N, … Benoist JF
  • CONCLUSIONS: These data demonstrate that approximately half of the patients affected by MMA or PA had signs of liver abnormalities. The increase of αFP with age suggests progressive toxicity, which might be due to the metabolites accumulated in PA and MMA. These metabolites (e.g., methylmalonic acid and propionic acid derivatives) have previously been reported to have mitochondrial toxicity; this toxicity is confirmed by the results of histological and biochemical mitochondrial analyses of the liver in two of our MMA patients. In contrast to the moderate clinical, laboratory or ultrasound expression, severe pathological expression was found for three of the 4 patients who underwent liver biopsy, ranging from fibrosis to cirrhosis. These results emphasize the need for detailed liver function evaluation in organic aciduria patients, including liver biopsy when liver disease is suspected.MMA and PA patients exhibit long-term liver abnormalities.
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