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Canadian Journal of Neurological Sciences Canadian Journal of Neurological Sciences

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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  and
Saadet Mercimek-Andrews [Opens in a new window]
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
E-mail address:
saadet.andrews@sickkids.ca
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Abstract

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Keywords

Pyrroline-5-carboxylate reductase 2 deficiency PYCR2 Microcephaly Hypomyelination Seizures Global developmental delay
Type
Letter to the Editor
Information
Canadian Journal of Neurological Sciences , Volume 47 , Issue 2 , March 2020 , pp. 280 - 282
Copyright
Copyright © 2020 The Canadian Journal of Neurological Sciences Inc.

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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;80:59–70.10.1002/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;6:61–76.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

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