Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.

Movement Disorders Clinical PracticeVolume 10, Issue S3 p. S38-S40 CASE REPORT Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I Tien Lee Ong MBBS, Corresponding Author Tien Lee Ong MBBS [email protected] orcid.org/0000-0002-9804-6538 Neurology Unit, Medical Department, Hospital Sungai Buloh, Ministry of Health, Sungai Buloh, Malaysia Correspondence to: Tien Lee Ong, Hospital Sungai Buloh, Jalan Hospital, 47000 Sungai Buloh, Malaysia; E-mail: [email protected]Search for more papers by this authorYue Hui Lau MBBS, Yue Hui Lau MBBS orcid.org/0000-0003-0558-4095 Neurology Unit, Medical Department, Hospital Tengku Ampuan Rahimah Klang, Ministry of Health, Sungai Buloh, MalaysiaSearch for more papers by this authorLock Hock Ngu MBBS, Lock Hock Ngu MBBS orcid.org/0000-0002-2396-1686 Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, MalaysiaSearch for more papers by this authorDianah Hadi MBBS, Dianah Hadi MBBS Paediatric Neurology Department, Hospital Tunku Azizah Kuala Lumpur, Ministry of Health, Kuala Lumpur, MalaysiaSearch for more papers by this authorKeng Ming Lau MBBS, Keng Ming Lau MBBS orcid.org/0000-0001-8225-1652 Department of Internal Medicine, Royal Victoria Hospital, Belfast Health & Social Care Trust, Northern Ireland, UKSearch for more papers by this authorAhmad Shahir Mawardi MD, Ahmad Shahir Mawardi MD orcid.org/0000-0001-9811-4572 Neurology Department, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, MalaysiaSearch for more papers by this author Tien Lee Ong MBBS, Corresponding Author Tien Lee Ong MBBS [email protected] orcid.org/0000-0002-9804-6538 Neurology Unit, Medical Department, Hospital Sungai Buloh, Ministry of Health, Sungai Buloh, Malaysia Correspondence to: Tien Lee Ong, Hospital Sungai Buloh, Jalan Hospital, 47000 Sungai Buloh, Malaysia; E-mail: [email protected]Search for more papers by this authorYue Hui Lau MBBS, Yue Hui Lau MBBS orcid.org/0000-0003-0558-4095 Neurology Unit, Medical Department, Hospital Tengku Ampuan Rahimah Klang, Ministry of Health, Sungai Buloh, MalaysiaSearch for more papers by this authorLock Hock Ngu MBBS, Lock Hock Ngu MBBS orcid.org/0000-0002-2396-1686 Department of Genetics, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, MalaysiaSearch for more papers by this authorDianah Hadi MBBS, Dianah Hadi MBBS Paediatric Neurology Department, Hospital Tunku Azizah Kuala Lumpur, Ministry of Health, Kuala Lumpur, MalaysiaSearch for more papers by this authorKeng Ming Lau MBBS, Keng Ming Lau MBBS orcid.org/0000-0001-8225-1652 Department of Internal Medicine, Royal Victoria Hospital, Belfast Health & Social Care Trust, Northern Ireland, UKSearch for more papers by this authorAhmad Shahir Mawardi MD, Ahmad Shahir Mawardi MD orcid.org/0000-0001-9811-4572 Neurology Department, Hospital Kuala Lumpur, Ministry of Health, Kuala Lumpur, MalaysiaSearch for more papers by this author First published: 24 August 2023 https://doi.org/10.1002/mdc3.13780Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Schafer IA, Scriver CR, Efron ML. Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness. N Engl J Med 1962; 267: 51–60. 10.1056/NEJM196207122670201 CASPubMedWeb of Science®Google Scholar 2Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Biochemical and clinical features of hereditary hyperprolinemia. Pediatr Int 2014; 56(4): 492–496. 10.1111/ped.12420 CASPubMedWeb of Science®Google Scholar 3van de Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E. Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. J Inherit Metab Dis 2014; 37(3): 383–390. 10.1007/s10545-013-9660-9 PubMedWeb of Science®Google Scholar 4Bender HU, Almashanu S, Steel G, et al. Functional consequences of PRODH missense mutations. Am J Hum Genet 2005; 76(3): 409–420. 10.1086/428142 CASPubMedWeb of Science®Google Scholar 5Hama R, Kido J, Sugawara K, Nakamura T, Nakamura K. Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH. Hum Genome Var 2021; 8(1): 28. 10.1038/s41439-021-00159-5 CASPubMedWeb of Science®Google Scholar 6Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene. J Med Genet 2003; 40(1):e7. 10.1136/jmg.40.1.e7 CASPubMedGoogle Scholar Volume10, IssueS3Supplement: Cases from the 2022 International CongressAugust 2023Pages S38-S40 ReferencesRelatedInformation