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Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal\u20105\u2010phosphate (PLP)\u2010dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine\u2010deficient encephalopathy. These patients highlight the importance of tissue non\u2010specific alkaline phosphatase in the neuronal PLP\u2010dependent metabolism of neurotransmitters. In addition, the disturbance of PLP metabolism appears to underlie the predominant neurological presentation in our patients. We recommend the measurement of serum alkaline phosphatase (ALP) during the assessment of perinatal seizures.<\/jats:p>","DOI":"10.1007\/s10545-009-9012-y","type":"journal-article","created":{"date-parts":[[2010,1,4]],"date-time":"2010-01-04T09:33:14Z","timestamp":1262597594000},"page":"25-33","source":"Crossref","is-referenced-by-count":71,"title":["Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co\u2010factor pyridoxal\u20105\u2032\u2010phosphate availability"],"prefix":"10.1002","volume":"33","author":[{"given":"Shanti","family":"Balasubramaniam","sequence":"first","affiliation":[{"name":"Genetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Bowling","sequence":"additional","affiliation":[{"name":"Department of Biochemical Disease Mater Health Services Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Carpenter","sequence":"additional","affiliation":[{"name":"NSW Biochemical Genetics Service The Children's Hospital at Westmead Sydney Australia"},{"name":"Discipline of Genetic Medicine University of Sydney Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Earl","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry The Children's Hospital at Westmead Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Chaitow","sequence":"additional","affiliation":[{"name":"Department of Paediatric Rheumatology The Children's Hospital at Westmead Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Melbourne Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Mornet","sequence":"additional","affiliation":[{"name":"Laboratoire SESEP Centre Hospitalier de Versailles Le Chesnay France"},{"name":"Equipe EA2493 Universit\u00e9 de Versailles Saint\u2010Quentin en Yvelines Versailles France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sillence","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics The Children's Hospital at Westmead Sydney Australia"},{"name":"Discipline of Genetic Medicine University of Sydney Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Ellaway","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney Australia"},{"name":"Discipline of Genetic Medicine University of Sydney Sydney Australia"},{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Clinical School Locked Bag 4001 Westmead NSW 2145 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63172-0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.01.020"},{"key":"e_1_2_7_4_1","first-page":"835","article-title":"Neonatal discovery of hypophosphatasia. 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