| SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. | |
| | |
MedLine Citation:
|
PMID: 19175828 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND AND AIM: We encounter hyper-3-oxo-Delta(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-Delta(4) bile aciduria from primary 3-oxo-Delta(4)-steroid 5beta-reductase deficiency. METHODS: To determine whether 3-oxo-Delta(4)-steroid 5beta-reductase (SRD5B1) gene analysis is required for the accurate diagnosis of 3-oxo-Delta(4)-steroid 5beta-reductase deficiency, we evaluated the laboratory data, bile acid analysis and SRD5B1 gene analysis from six patients with hyper-3-oxo-Delta(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-Delta(4)-steroid 5beta-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-Delta(4)-steroid 5beta-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. |
| | |
Authors:
|
Isao Ueki; Akihiko Kimura; Huey-Ling Chen; Tohru Yorifuji; Jun Mori; Susumu Itoh; Kenichi Maruyama; Takashi Ishige; Hajime Takei; Hiroshi Nittono; Takao Kurosawa; Masayoshi Kage; Toyojiro Matsuishi |
Related Documents
:
|
15015068 - The enigma of hyperparathyroidism in hypophosphatemic rickets. 19287188 - Expression analyses of human cleft palate tissue suggest a role for osteopontin and imm... 1554798 - Presence of more than two rearranged immunoglobulin heavy-chain genes in adult precurso... 16199538 - Multicolour fish and quantitative pcr can detect submicroscopic deletions in holoprosen... 19711178 - Evaluation of anti-colitic effect of lactic acid bacteria in mice by cdna microarray an... 9269688 - Establishing chemoresistance in hematopoietic progenitor cells. |
Publication Detail:
|
Type: Case Reports; Journal Article; Multicenter Study Date: 2008-11-03 |
Journal Detail:
|
Title: Journal of gastroenterology and hepatology Volume: 24 ISSN: 1440-1746 ISO Abbreviation: J. Gastroenterol. Hepatol. Publication Date: 2009 May |
Date Detail:
|
Created Date: 2009-08-03 Completed Date: 2009-10-15 Revised Date: 2012-05-25 |
Medline Journal Info:
|
Nlm Unique ID: 8607909 Medline TA: J Gastroenterol Hepatol Country: Australia |
Other Details:
|
Languages: eng Pagination: 776-85 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Autopsy Bile Acids and Salts / urine Cholestasis / diagnosis, enzymology, genetics DNA Mutational Analysis* Diagnosis, Differential Fatal Outcome Female Genetic Testing* Heterozygote Humans Infant, Newborn Japan Liver / enzymology, pathology Male Metabolism, Inborn Errors / diagnosis, enzymology, genetics*, therapy Mutation Oxidoreductases / deficiency, genetics* Phenotype Predictive Value of Tests Taiwan Treatment Outcome |
| Chemical | |
Reg. No./Substance:
|
0/Bile Acids and Salts; EC 1.-/Oxidoreductases; EC 1.3.1.3/cholestenone 5 beta-reductase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Unclassified mucin phenotype of gastric adenocarcinoma exhibits the highest invasiveness.
Next Document: Expression of intercellular adhesion molecule (ICAM)-1 or ICAM-2 is critical in determining sensitiv...