A Turkish patient with novel AHCY variants and presumed diagnosis of S‐adenosylhomocysteine hydrolase deficiency

2020 ◽  
Vol 182 (4) ◽  
pp. 740-745
Author(s):  
Hasan Bas ◽  
Oguz Cilingir ◽  
Neslihan Tekin ◽  
Suzan Saylisoy ◽  
Beyhan Durak Aras ◽  
...  
Keyword(s):  
Adenosylhomocysteine Hydrolase ◽  
Turkish Patient

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

2020 ◽  
Vol 33 (5) ◽  
pp. 665-669
Author(s):  
Aynur Küçükçongar Yavaş ◽  
Büşra Çavdarlı ◽  
Özlem Ünal Uzun ◽  
Ayşen Uncuoğlu ◽  
Mehmet Gündüz
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Intrahepatic Cholestasis ◽  
Density Lipoprotein ◽  
Etiologic Factor ◽  
Compound Heterozygous ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Turkish Patient ◽  
Type 3

AbstractBackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.Case presentationHere we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.ConclusionThis is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.

Gene frequencies of S-adenosylhomocysteine hydrolase (SAHH) in a Japanese population

1984 ◽  
Vol 68 (2) ◽  
pp. 191-192 ◽  
Author(s):  
Katsunori Akiyama ◽  
Shigeki Nakamura ◽  
Kazue Abe
Keyword(s):  
Japanese Population ◽  
Gene Frequencies ◽  
Adenosylhomocysteine Hydrolase

Role of S-adenosylhomocysteine hydrolase in adenosine-induced apoptosis in HepG2 cells

2007 ◽  
Vol 313 (2) ◽  
pp. 264-283 ◽  
Author(s):  
Marina Hermes ◽  
Hartmut Osswald ◽  
Doris Kloor
Keyword(s):  
Hepg2 Cells ◽  
Adenosylhomocysteine Hydrolase ◽  
Induced Apoptosis
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