Ueki I.Kimura A.HUEY-LING CHENYorifuji T.Mori J.Itoh S.Maruyama K.Ishige T.Takei H.Nittono H.Kurosawa T.Kage M.Matsuishi T.2020-03-102020-03-1020090815-9319https://www.scopus.com/inward/record.uri?eid=2-s2.0-65949099138&doi=10.1111%2fj.1440-1746.2008.05669.x&partnerID=40&md5=516fdb2cc1efedba7bc841dc4d54e904https://scholars.lib.ntu.edu.tw/handle/123456789/475146Background and Aim: We encounter hyper-3-oxo-Δ4 bile aciduria in patients with severe cholestatic liver disease or fulminant liver failure during the neonatal period. However, simply by bile acid analysis, it is difficult to distinguish hyper-3-oxo-Δ4 bile aciduria from primary 3-oxo-Δ4-steroid 5β-reductase deficiency. Methods: To determine whether 3-oxo-Δ4-steroid 5β-reductase (SRD5B1) gene analysis is required for the accurate diagnosis of 3-oxo-Δ4-steroid 5β-reductase deficiency, we evaluated the laboratory data, bile acid analysis and SRD5B1 gene analysis from six patients with hyper-3-oxo-Δ4 bile aciduria. Results: Based upon the results, four patients who had developed neonatal liver failure were diagnosed as having neonatal hemochromatosis. Two patients with chronic cholestasis were diagnosed as having primary 3-oxo-Δ4-steroid 5β-reductase deficiency by SRD5B1 gene analysis. The SRD5B1 gene in these two patients had a heterozygous mutation, G737A (Gly 223 Glu) in one patient and C217T (Arg 50 stop) in the other. Conclusions: Based upon our limited data, we conclude that SDR5B1 gene analysis is required for the accurate diagnosis of 3-oxo-Δ4-steroid 5β-reductase deficiency. Moreover, we think that it is important to elucidate whether there is a heterozygous or a compound heterozygous mutation of the SRD5B1 gene in our two patients. ? 2008 Journal of Gastroenterology and Hepatology Foundation and Blackwell Publishing Asia Pty Ltd.EnglishInborn error of bile acid metabolism; Mutation analysis; Neonatal cholestasis; Ursodeoxycholic acid therapy[SDGs]SDG33 oxo delta4 steroid 5beta reductase; arginine; chenodeoxycholic acid; disofenin tc 99m; glutamine; glycine; oxidoreductase; unclassified drug; ursodeoxycholic acid; 3 oxo delta4 steroid 5beta reductase deficiency; aciduria; article; bile acid blood level; cholestasis; computer assisted tomography; diagnostic accuracy; enzyme deficiency; female; gallbladder scintiscanning; gene mutation; genetic analysis; hemochromatosis; histopathology; human; human tissue; infant; jaundice; laboratory diagnosis; liver biopsy; liver cirrhosis; liver failure; liver function test; major clinical study; male; newborn; nuclear magnetic resonance imaging; physical examination; priority journal; Autopsy; Bile Acids and Salts; Cholestasis; Diagnosis, Differential; DNA Mutational Analysis; Fatal Outcome; Female; Genetic Testing; Heterozygote; Humans; Infant, Newborn; Japan; Liver; Male; Metabolism, Inborn Errors; Mutation; Oxidoreductases; Phenotype; Predictive Value of Tests; Taiwan; Treatment Outcomejournal article10.1111/j.1440-1746.2008.05669.x191758282-s2.0-65949099138