Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-12

AUTHORS

Shanti Balasubramaniam, Frank Bowling, Kevin Carpenter, John Earl, Jeffrey Chaitow, James Pitt, Etienne Mornet, David Sillence, Carolyn Ellaway

ABSTRACT

We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine-deficient encephalopathy. These patients highlight the importance of tissue non-specific alkaline phosphatase in the neuronal PLP-dependent 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. More... »

PAGES

25-33

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-009-9012-y

DOI

http://dx.doi.org/10.1007/s10545-009-9012-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026915795

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20049532


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RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10545-009-9012-y'


 

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319 rdf:type schema:Organization
320 https://www.grid.ac/institutes/grid.1491.d schema:alternateName Mater Health Services
321 schema:name Department of Biochemical Disease, Mater Health Services, Brisbane, Australia
322 rdf:type schema:Organization
323 https://www.grid.ac/institutes/grid.413973.b schema:alternateName Children's Hospital at Westmead
324 schema:name Department of Clinical Chemistry, The Children’s Hospital at Westmead, Sydney, Australia
325 Department of Paediatric Rheumatology, The Children’s Hospital at Westmead, Sydney, Australia
326 Genetic Metabolic Disorders Service, The Children’s Hospital at Westmead, Sydney, Australia
327 rdf:type schema:Organization
 




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