Skip to main content Accessibility help
×
Home
Hostname: page-component-559fc8cf4f-dxfhg Total loading time: 0.39 Render date: 2021-02-26T12:46:21.584Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": false, "newCiteModal": false, "newCitedByModal": true }

Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature

Published online by Cambridge University Press:  10 January 2020

Bushra Afroze
Affiliation:
Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan
Saadet Mercimek-Andrews
Affiliation:
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
Corresponding

Abstract

Image of the first page of this article
Type
Letter to the Editor
Copyright
Copyright © 2020 The Canadian Journal of Neurological Sciences Inc.

Access options

Get access to the full version of this content by using one of the access options below.

References

Elijah, A, Leonard, F.Metabolism of proline and the hydroxyprolines. Annu Rev Biochem 1980;49:1005–61.Google Scholar
Perez-Arellano, I, Carmona-Alvarez, F, Martinez, AI, et al.Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease. Protein Sci 2010;19:372–82.Google ScholarPubMed
Nakayama, T, Al-Maawali, A, El-Quessny, M, et al.Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination. Am J Hum Genet 2015;96:709–19.10.1016/j.ajhg.2015.03.003CrossRefGoogle ScholarPubMed
Zaki, MS, Bhat, G, Sultan, T, et al.PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 2016;80:5970.10.1002/ana.24678CrossRefGoogle Scholar
Meng, L, Donti, T, Xia, F, et al.Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A 2017;173:460–70.10.1002/ajmg.a.38049CrossRefGoogle ScholarPubMed
Bick, D, Fraser, PC, Gutzeit, MF, et al.Successful application of whole genome sequencing in a medical genetics clinic. J Pediatr Genet 2017;6:6176.Google Scholar
Schiffmann, R, van der Knaap, MS.Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750–59.10.1212/01.wnl.0000343049.00540.c8CrossRefGoogle Scholar

Afroze and Mercimek-Andrews supplementary material

Table S1

File 27 KB

Full text views

Full text views reflects PDF downloads, PDFs sent to Google Drive, Dropbox and Kindle and HTML full text views.

Total number of HTML views: 35
Total number of PDF views: 165 *
View data table for this chart

* Views captured on Cambridge Core between 10th January 2020 - 26th February 2021. This data will be updated every 24 hours.

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature
Available formats
×

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature
Available formats
×

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature
Available formats
×
×

Reply to: Submit a response


Your details


Conflicting interests

Do you have any conflicting interests? *