NDLI: Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

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Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

Content Provider	Semantic Scholar
Author	Whyte, Michael P. Mahuren, J. Dennis Fedde, Kenton N. Cole, Francis Sessions McCabe, Edward R. B. Coburn, Stephen P.
Copyright Year	1988
Abstract	"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP) (TNSALP). We report that autopsy tissue from three affected subjects, which was profoundly low in ALP activity, had essentially unremarkable levels of pyridoxal-5'-phosphate (PLP), pyridoxal, and total vitamin B6 content despite markedly elevated plasma PLP levels (5,800, 14,500, and 98,500 nM; adult norm, 5-109 nM). Our findings help to explain the general absence of symptoms of vitamin B6 excess or deficiency in hypophosphatasia, and provide evidence that TNSALP acts as an ectoenzyme to regulate extracellular rather than intracellular concentrations of PLP (the cofactor form of vitamin B6) and perhaps other phosphate compounds.
File Format	PDF HTM / HTML
DOI	10.1172/JCI113440
PubMed reference number	3350970
Journal	Medline
Volume Number	81
Issue Number	4
Alternate Webpage(s)	http://dm5migu4zj3pb.cloudfront.net/manuscripts/113000/113440/JCI88113440.pdf
Alternate Webpage(s)	https://doi.org/10.1172/JCI113440
Journal	The Journal of clinical investigation
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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