| Literature DB >> 24100244 |
Marieke G A de Roo1, Nico G G M Abeling2, Charles B Majoie3, Annet M Bosch1, Johannes H T M Koelman4, Jan M Cobben1, Marinus Duran2, Bwee Tien Poll-The5.
Abstract
An infant carrying a heterozygous c.43_46delACTA and a heterozygous c.668 G>A mutation in the ALPL gene with hypophosphatasia in the absence of bone deformities presented with therapy-resistant seizures. Pyridoxal phosphate was extremely high in CSF and plasma. Pyridoxine treatment had only a transient effect and the severe encephalopathy was fatal. Repeated brain MRIs showed progressive cerebral damage. The precise metabolic cause of the seizures remains unknown and pyridoxine treatment apparently does not cure the epilepsy.Entities:
Keywords: Alkaline phosphatase; Encephalopathy; Hypophosphatasia; Pyridoxine therapy; Therapy resistant seizures
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Year: 2013 PMID： 24100244 DOI： 10.1016/j.ymgme.2013.09.014
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797