New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition
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- 作者：Eduardo Calpena (1) (2) (3)
Anup Arunrao Deshpande (4) (5)
Sufin Yap (6)
Akhilesh Kumar (4) (5)
Nigel J. Manning (6)
Anand K. Bachhawat (4) (5)
Carmen Espin贸s (1) (2) (3) (7)
1. Program in Rare and Genetic Diseases ; Centro de Investigaci贸n Pr铆ncipe Felipe (CIPF) ; Valencia ; Spain
2. CIPF and IBV-CSIC Associated Unit ; Valencia ; Spain
3. Centro de Investigaci贸n Biom茅dica en Red de Enfermedades Raras (CIBERER) ; Valencia ; Spain
4. Institute of Microbial Technology (IMTECH) ; Chandigarh ; India
5. Indian Institute of Science and Education Research (IISER) ; Mohali ; Punjab ; India
6. Sheffield Children鈥檚 Hospital ; NHS Foundation Trust ; Sheffield ; UK
7. Unit of Genetics and Genomics of Neuromuscular Disorders ; Centro de Investigaci贸n Pr铆ncipe Felipe (CIPF) ; c/Eduardo Primo Y煤fera ; 3 ; 46012 ; Valencia ; Spain - 关键词：OPLAH gene ; Oxoprolinuria ; Oxoprolinase deficiency ; Yeast growth assay
- 刊名：European Journal of Pediatrics
- 出版年：2015
- 出版时间：March 2015
- 年：2015
- 卷：174
- 期：3
- 页码：407-411
- 全文大小：458 KB
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11. Ristoff E, Larsson A (2007) Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis 2:16 g/10.1186/1750-1172-2-16" target="_blank" title="It opens in new window">CrossRef
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- 出版者：Springer Berlin Heidelberg
- ISSN：1432-1076
文摘
Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterised by 5-oxoprolinuria. To date, three OPLAH mutations have been described: p.H870Pfs in a homozygous state, which results in a truncated protein, was reported in two siblings, and two heterozygous missense changes, p.S323R and p.V1089I, were independently identified in two unrelated patients. We describe the clinical context of a young girl who manifested 5-oxoprolinuria together with dusky episodes and who is compound heterozygote for two novel OPLAH variations: p.G860R and p.D1241V. To gain insight into the aetiology of the 5-oxoprolinase deficiency, we investigated the pathogenicity of all the reported missense mutations in the OPLAH gene. A yeast in vivo growth assay revealed that only p.S323R, p.G860R and p.D1241V affected the activity of the enzyme. Conclusion: Taken together, this report further suggests that hereditary 5-oxoprolinase deficiency is a benign biochemical condition caused by mutations in the OPLAH gene, which are transmitted in an autosomal recessive manner, but 5-oxoprolinuria may be a chance association in other disorders.