Hypophosphatasia: Vitamin B
4-Pyridoxic acid
Alkaline phosphatase
Cerebrospinal fluid
Enzymopathy
Hypervitaminosis B(6)
Hypovitaminosis B(6)
Inborn error
Inorganic pyrophosphate
L-tryptophan challenge
Metabolic bone disease
Neuropathy
Osteomalacia
Pyridoxal
Pyridoxal 5′-phosphate
Pyridoxamine
Pyridoxine
Rickets
Vitamin B(6)-dependent seizures
Journal
Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
08
06
2021
revised:
09
09
2021
accepted:
14
09
2021
pubmed:
22
9
2021
medline:
12
3
2022
entrez:
21
9
2021
Statut:
ppublish
Résumé
Hypophosphatasia (HPP) is the heritable dento-osseous disease caused by loss-of-function mutation(s) of the gene ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a cell-surface homodimeric phosphomonoester phosphohydrolase expressed in healthy people especially in the skeleton, liver, kidneys, and developing teeth. In HPP, diminished TNSALP activity leads to extracellular accumulation of its natural substrates including inorganic pyrophosphate (PPi), an inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B
Identifiants
pubmed: 34547524
pii: S8756-3282(21)00370-7
doi: 10.1016/j.bone.2021.116204
pii:
doi:
Substances chimiques
Vitamins
0
Vitamin B 6
8059-24-3
Alkaline Phosphatase
EC 3.1.3.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
116204Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.