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Late diagnosis of hypophosphatasia in a case with Unverricht-Lundborg disease

Zouwail, Soha, Longworth, Nathan, Grey, Joseph, Nesbitt, Mandy, Sisodiya, Sanjay and Hamandi, Khalid 2019. Late diagnosis of hypophosphatasia in a case with Unverricht-Lundborg disease. Annals of Clinical Biochemistry 56 (4) , pp. 515-518. 10.1177/0004563219854110

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Abstract

A significant increase in the activity of serum alkaline phosphatase is commonly reported in patients on long-term antiepileptic treatment or after any uncomplicated fracture. We report a case of a 35-year-old male patient on five different anticonvulsant medications for treatment of the rare autosomal recessive neurodegenerative disorder, Unverricht-Lundborg disease. He presented with bilateral metatarsal fractures: however, his serum alkaline phosphatase activity remained below the lower limit of reference interval. Biochemical laboratory investigations revealed a longstanding low serum alkaline phosphatase and raised plasma pyridoxal-5′-phosphate concentration. Sequencing of genomic DNA revealed that he is heterozygous for a mutation in the ALPL gene, which is consistent with the diagnosis of hypophosphatasia.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Psychology
Cardiff University Brain Research Imaging Centre (CUBRIC)
Publisher: SAGE Publications (UK and US)
ISSN: 0004-5632
Date of Acceptance: 9 May 2020
Last Modified: 07 Jan 2021 14:32
URI: http://orca.cf.ac.uk/id/eprint/137266

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