SRD5B1 (AKR1D1) gene analysis in Δ4-3-oxosteroid 5β-reductase deficiency: evidence for primary genetic defect
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The deficiency is exacerbated by inability to form sufficient bile acids to feedback-inhibit CYP7A1, leading to further elevation of allo-bile acids.
“This deficiency is exacerbated by the inability to from sufficient bile acids to feed-back and inhibit the rate determining step in the pathway, 7α-hydroxylase (CYP7A1), and thus the formation of allo-bile acids will be further elevated [95–99].”
From Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism (2014) · cites this paper as [96]
Seven point mutations are known in patients with 5β-reductase deficiency: Leu106Phe, Pro133Arg, Gly223Glu, Pro198Leu, Asp241Val, Arg261Cys, and Arg266Glu.
“seven point mutations have been identified in patients with 5β-reductase deficiency: Leu106Phe, Pro133Arg, Gly223Glu, Pro198Leu, Asp241Val, Arg261Cys and Arg266Glu [95–97, 99, 100].”
From Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism (2014) · cites this paper as [96]
Inherited AKR1D1 mutations cause bile-acid deficiency in infants characterized by reduced bile acid formation and accumulation of hepatotoxic Δ4-3-keto and 5α-reduced allo-bile acids.
“Inherited mutations in AKR1D1 have been studied in patients with bile-acid deficiency that develops in infants and is characterized by reduced formation of bile acids and accumulation of Δ4-3-keto and 5α-reduced (allo-bile acids) which are hepatotoxic.”
From Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism (2014) · cites this paper as [96]
SNPs in AKR1C1, AKR1C2, and AKR1C4 have been studied at the protein level, and Phe46Tyr has been associated with disease.
“So far SNPs in AKR1C1, AKR1C2 and AKR1C4 have been studied at the protein level and Phe46Tyr has been associated with disease [95–97, 99, 103, 104].”
From Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism (2014) · cites this paper as [96]
Mutations of AKR1D1 lead to severely reduced to completely absent urinary 5β-reduced steroid excretion and hepatic failure, as AKR1D1 is essentially involved in hepatic bile acid synthesis, but no other clinical manifestations.
“Mutations of AKR1D1 lead to severely reduced to completely absent urinary 5β-reduced steroid excretion and hepatic failure, as AKR1D1 is essentially involved in hepatic bile acid synthesis, but no other clinical manifestations (Gonzales et al., 2004, Lemonde et al., 2003, Palermo et al., 2008).”
From Intracrine androgen biosynthesis, metabolism and action revisited (2018) · cites this paper as Gonzales et al., 2004
Cites
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Lemonde, H. A., Custard, E. J., Bouquet, J., Duran, M., Overmars, H., Scambler, P. J., & Clayton, P. T. (2003) · Gut · doi:10.1136/gut.52.10.1494 · Cited by 125 · see citing works
Daugherty, Y. C., Setchell, K. D. R., Heubi, J. E., & Ballstreri, W. F. (1993) · Hepatology · doi:10.1002/hep.1840180513 · Cited by 88 · see citing works
3-OXO-Δ4 BILE ACIDS IN LIVER DISEASE
Clayton, P. T., Patel, E., Lawson, A. M., CARRUTHERS, R. A., Tanner, M. S., Strandvik, B., Egestad, B., & Sjövall, J. (1988) · The Lancet · doi:10.1016/s0140-6736(88)92104-6 · Cited by 87 · see citing works
Charbonneau, A., & The, V. L. (2001) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/s0167-4781(00)00278-5 · Cited by 53 · see citing works
Gene analysis in δ-3-oxosteroid 5β–reductase deficiency
Sumazaki, R., Nakamura, N., Shoda, J., Kurosawa, T., & Tohma, M. (1997) · The Lancet · doi:10.1016/s0140-6736(05)62828-0 · Cited by 37 · see citing works
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Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism
Rižner, T. L., & Penning, T. M. (2014) · Steroids · doi:10.1016/j.steroids.2013.10.012 · Cited by 217 · see citing works
Intracrine androgen biosynthesis, metabolism and action revisited
Schiffer, L., Arlt, W., & Storbeck, K.-H. (2018) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.016 · Cited by 217 · see citing works
“Mutations of AKR1D1 lead to severely reduced to completely absent urinary 5b-reduced steroid excretion and hepatic failure, as AKR1D1 is essentially involved in hepatic bile acid synthesis, but no other clinical manifestations (Gonzales et al., 2004; Lemonde et al., 2003; Palermo et al., 2008).”
Structural and functional biology of aldo-keto reductase steroid transforming enzymes
Penning, T. M., Wangtrakuldee, P., & Auchus, R. J. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00089 · Cited by 164 · see citing works
Mechanisms of disease: inborn errors of bile acid synthesis
Sundaram, S. S., Bove, K. E., Lovell, M. A., & Sokol, R. J. (2008) · Nature Clinical Practice Gastroenterology & Hepatology · doi:10.1038/ncpgasthep1179 · Cited by 146 · see citing works
Di Costanzo, L., Drury, J. E., Penning, T. M., & Christianson, D. W. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m801778200 · Cited by 79 · see citing works
5β-Reduced steroids and human Δ4-3-ketosteroid 5β-reductase (AKR1D1)
Chen, M., & Penning, T. M. (2014) · Steroids · doi:10.1016/j.steroids.2014.01.013 · Cited by 55 · see citing works
Drury, J. E., Mindnich, R., & Penning, T. M. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.127779 · Cited by 51 · see citing works
Ueki, I., Kimura, A., Chen, H., Yorifuji, T., Mori, J., Itoh, S., Maruyama, K., Ishige, T., Takei, H., Nittono, H., et al. (2009) · Journal of Gastroenterology and Hepatology · doi:10.1111/j.1440-1746.2008.05669.x · Cited by 41 · see citing works
Seki, Y., Mizuochi, T., Kimura, A., Takahashi, T., Ohtake, A., Hayashi, S., Morimura, T., Ohno, Y., Hoshina, T., Ihara, K., et al. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9526-6 · Cited by 26 · see citing works
The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function
Mindnich, R., Drury, J. E., & Penning, T. M. (2011) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2010.12.020 · Cited by 16 · see citing works
- Authors
- Gonzales, E., Cresteil, D., Baussan, C., Dabadie, A., Gerhardt, M.-F., & Jacquemin, E.
- Affiliations
- Inserm (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire de Rennes (FR)
- Hôpital Paris Saint-Joseph (FR)
- Venue
- Journal of Hepatology
- Publisher
- Elsevier BV
- Published
- 2004-04
- Volume
- 40
- Issue
- 4
- Pages
- 716-718
- ISSN
- 0168-8278 (ISSN-L)
- OpenAlex
- W1996799615
- Cited by
- 68
- References
- 6
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 5 · 2023: 3 · 2022: 1 · 2021: 2 · 2019: 3 · 2018: 4 · 2017: 6 · 2016: 4 · 2015: 3 · 2014: 4 · 2013: 6 · 2012: 3
- FWCI
- 0.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Hepatology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- AKR1D1, genetic disorders, steroid metabolism
- MeSH terms
- Base Sequence, Bile Acids and Salts, Diseases in Twins, DNA, DNA Mutational Analysis, Exons, Female, Heterozygote, Humans, Infant, Metabolism, Inborn Errors, Oxidoreductases, Twins, Monozygotic, Liver Failure, Point Mutation
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