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SRD5B1 gene analysis needed for the accurate diagnosis of primary 3‐oxo‐Δ 4 ‐steroid 5β‐reductase deficiency
Author(s) -
Ueki Isao,
Kimura Akihiko,
Chen HueyLing,
Yorifuji Tohru,
Mori Jun,
Itoh Susumu,
Maruyama Kenichi,
Ishige Takashi,
Takei Hajime,
Nittono Hiroshi,
Kurosawa Takao,
Kage Masayoshi,
Matsuishi Toyojiro
Publication year - 2009
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.2008.05669.x
Subject(s) - medicine , bile acid , reductase , steroid , compound heterozygosity , endocrinology , cholestasis , mutation , gene , gastroenterology , biology , enzyme , genetics , hormone , biochemistry
Background and Aim: We encounter hyper‐3‐oxo‐Δ 4 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‐Δ 4 bile aciduria from primary 3‐oxo‐Δ 4 ‐steroid 5β‐reductase deficiency. Methods: To determine whether 3‐oxo‐Δ 4 ‐steroid 5β‐reductase ( SRD5B1 ) gene analysis is required for the accurate diagnosis of 3‐oxo‐Δ 4 ‐steroid 5β‐reductase deficiency, we evaluated the laboratory data, bile acid analysis and SRD5B1 gene analysis from six patients with hyper‐3‐oxo‐Δ 4 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‐Δ 4 ‐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‐Δ 4 ‐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.