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Low tissue non-specific alkaline phosphatase

MedGen UID:
869316
•Concept ID:
C4023742
•
Finding
Synonym: Low tissue non-specific ALP
 
HPO: HP:0010683

Definition

An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLow tissue non-specific alkaline phosphatase

Professional guidelines

PubMed

Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A
Eur J Med Genet 2023 Nov;66(11):104856. Epub 2023 Sep 25 doi: 10.1016/j.ejmg.2023.104856. PMID: 37758163
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.
Mornet E, Muller F, Ngo S, Taillandier A, Simon-Bouy B, Maire I, Oury JF
Prenat Diagn 1999 Aug;19(8):755-7. doi: 10.1002/(sici)1097-0223(199908)19:8<755::aid-pd629>3.0.co;2-#. PMID: 10451522

Recent clinical studies

Etiology

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years.
Larid G, Vix J, Preuss P, Robin F, Tison A, Delaveau C, Krajewski F, Bouvard B, Chu Miow Lin D, Guggenbuhl P, Maugars Y, Saraux A, Debiais F
RMD Open 2024 Apr 4;10(2) doi: 10.1136/rmdopen-2024-004316. PMID: 38580346Free PMC Article
The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.
Baroncelli GI, Carlucci G, Freri E, Giuca MR, Guarnieri V, Navarra G, Toschi B, Mora S
J Endocrinol Invest 2024 Mar;47(3):739-747. Epub 2023 Sep 26 doi: 10.1007/s40618-023-02199-w. PMID: 37752373Free PMC Article
Effects of Infantile Hypophosphatasia on Human Dental Tissue.
Wölfel EM, von Kroge S, Matthies L, Koehne T, Petz K, Beikler T, Schmid-Herrmann CU, Kahl-Nieke B, Tsiakas K, Santer R, Muschol NM, Herrmann J, Busse B, Amling M, Rolvien T, Jandl NM, Barvencik F
Calcif Tissue Int 2023 Mar;112(3):308-319. Epub 2022 Nov 21 doi: 10.1007/s00223-022-01041-4. PMID: 36414794Free PMC Article
Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Alkaline Phosphatase, Soluble Extracellular Adenine Nucleotides, and Adenosine Production after Infant Cardiopulmonary Bypass.
Davidson JA, Urban T, Tong S, Twite M, Woodruff A, Wischmeyer PE, Klawitter J
PLoS One 2016;11(7):e0158981. Epub 2016 Jul 6 doi: 10.1371/journal.pone.0158981. PMID: 27384524Free PMC Article

Diagnosis

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.
Baroncelli GI, Carlucci G, Freri E, Giuca MR, Guarnieri V, Navarra G, Toschi B, Mora S
J Endocrinol Invest 2024 Mar;47(3):739-747. Epub 2023 Sep 26 doi: 10.1007/s40618-023-02199-w. PMID: 37752373Free PMC Article
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A
Eur J Med Genet 2023 Nov;66(11):104856. Epub 2023 Sep 25 doi: 10.1016/j.ejmg.2023.104856. PMID: 37758163
Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.
Riancho JA
Calcif Tissue Int 2023 Mar;112(3):289-296. Epub 2022 Nov 8 doi: 10.1007/s00223-022-01039-y. PMID: 36348061
Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Clinical Forms and Animal Models of Hypophosphatasia.
Salles JP
Subcell Biochem 2015;76:3-24. doi: 10.1007/978-94-017-7197-9_1. PMID: 26219704

Therapy

Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS.
Kang M, Wu M, Crane JL
Bone 2023 Jul;172:116778. Epub 2023 Apr 21 doi: 10.1016/j.bone.2023.116778. PMID: 37088336Free PMC Article
Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.
Fukazawa M, Tezuka J, Sasazuki M, Masumoto N, Baba H, Doi T, Tsutsumi Y, Mizuno Y, Mihara F, Nakayama H
Brain Dev 2018 Feb;40(2):140-144. Epub 2017 Aug 9 doi: 10.1016/j.braindev.2017.07.015. PMID: 28802630
Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences.
Belkhouribchia J, Bravenboer B, Meuwissen M, Velkeniers B
BMJ Case Rep 2016 Jan 28;2016 doi: 10.1136/bcr-2015-212827. PMID: 26823351Free PMC Article
Ankylosing spondylitis, late osteoarthritis, vascular calcification, chondrocalcinosis and pseudo gout: toward a possible drug therapy.
Mebarek S, Hamade E, Thouverey C, Bandorowicz-Pikula J, Pikula S, Magne D, Buchet R
Curr Med Chem 2011;18(14):2196-203. doi: 10.2174/092986711795656153. PMID: 21517761

Prognosis

Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I
J Clin Pathol 2021 Oct;74(10):635-640. Epub 2021 Apr 30 doi: 10.1136/jclinpath-2021-207426. PMID: 33931563
Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.
Esmel-Vilomara R, Hernández S, Campos-Martorell A, González-Roca E, Yeste D, Castillo F
J Clin Res Pediatr Endocrinol 2020 Mar 19;12(1):104-108. Epub 2019 Apr 1 doi: 10.4274/jcrpe.galenos.2019.2018.0263. PMID: 30929401Free PMC Article
Gender Differences in Axial Spondyloarthritis: Women Are Not So Lucky.
Rusman T, van Vollenhoven RF, van der Horst-Bruinsma IE
Curr Rheumatol Rep 2018 May 12;20(6):35. doi: 10.1007/s11926-018-0744-2. PMID: 29754330Free PMC Article
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
Park EG, Cho SY, Lee J, Kim J, Cho H, Kim J, Huh R, Ki CS, Kim OH, Jin DK
Ann Clin Lab Sci 2016 May;46(3):302-7. PMID: 27312557
Clinical Forms and Animal Models of Hypophosphatasia.
Salles JP
Subcell Biochem 2015;76:3-24. doi: 10.1007/978-94-017-7197-9_1. PMID: 26219704

Clinical prediction guides

Blockade of brain alkaline phosphatase efficiently reduces amyloid-β plaque burden and associated cognitive impairment.
Soria-Tobar L, Román-Valero L, Sebastián-Serrano Á, Aivar P, Álvarez-Castelao B, Díaz-Hernández M
Alzheimers Res Ther 2024 Oct 22;16(1):233. doi: 10.1186/s13195-024-01600-x. PMID: 39438925Free PMC Article
Compromised Muscle Properties in a Severe Hypophosphatasia Murine Model.
Pendleton EG, Nichenko AS, Mcfaline-Figueroa J, Raymond-Pope CJ, Schifino AG, Pigg TM, Barrow RP, Greising SM, Call JA, Mortensen LJ
Int J Mol Sci 2023 Nov 2;24(21) doi: 10.3390/ijms242115905. PMID: 37958888Free PMC Article
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A
Eur J Med Genet 2023 Nov;66(11):104856. Epub 2023 Sep 25 doi: 10.1016/j.ejmg.2023.104856. PMID: 37758163
New insights into endogenous mechanisms of protection against arterial calcification.
Villa-Bellosta R
Atherosclerosis 2020 Aug;306:68-74. Epub 2020 Mar 19 doi: 10.1016/j.atherosclerosis.2020.03.007. PMID: 32209233
Gender Differences in Axial Spondyloarthritis: Women Are Not So Lucky.
Rusman T, van Vollenhoven RF, van der Horst-Bruinsma IE
Curr Rheumatol Rep 2018 May 12;20(6):35. doi: 10.1007/s11926-018-0744-2. PMID: 29754330Free PMC Article

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