Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Hypophosphatasia.

Etienne Mornet1

  • 1Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean-Louis Forain, 78150 Le Chesnay, France. etienne.mornet@cytogene.uvsq.fr

Orphanet Journal of Rare Diseases
|October 6, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Utility of genetic testing for prenatal presentations of hypophosphatasia.

Molecular genetics and metabolism·2021
Same author

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

European journal of human genetics : EJHG·2020
Same author

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Human mutation·2020
Same author

Genetic analysis of adults heterozygous for ALPL mutations.

Journal of bone and mineral metabolism·2017
Same author

Hypophosphatasia.

Metabolism: clinical and experimental·2017
Same author

Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.

Journal of neurochemistry·2017
Same journal

Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.

Orphanet journal of rare diseases·2026
Same journal

Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.

Orphanet journal of rare diseases·2026
Same journal

Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.

Orphanet journal of rare diseases·2026
Same journal

Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study.

Orphanet journal of rare diseases·2026
Same journal

Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.

Orphanet journal of rare diseases·2026
Same journal

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
See all related articles

Hypophosphatasia is a rare genetic disorder affecting bone and teeth mineralization due to alkaline phosphatase deficiency. Diagnosis involves genetic testing, and while no cure exists, enzyme replacement therapy shows promise.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Biochemistry

Background:

  • Hypophosphatasia (HPP) is a rare inherited metabolic bone disease.
  • It results from deficient activity of tissue-nonspecific alkaline phosphatase (TNAP).
  • HPP presents with a wide spectrum of clinical severity, affecting bone and teeth mineralization.

Purpose of the Study:

  • To provide a comprehensive overview of hypophosphatasia.
  • To detail the genetic basis, clinical manifestations, diagnosis, and management strategies for HPP.
  • To highlight current and future therapeutic approaches.

Main Methods:

  • Literature review of hypophosphatasia.
  • Analysis of clinical presentations across different HPP forms.
  • Review of diagnostic criteria including genetic testing and biochemical markers.

Related Experiment Videos

  • Summary of current and emerging treatment options.

    • Main Results:

    • HPP is caused by mutations in the ALPL gene, leading to reduced serum alkaline phosphatase.
    • Six clinical forms are recognized, ranging from lethal perinatal to adult presentations with skeletal and dental issues.
    • Diagnosis relies on low serum alkaline phosphatase, elevated urinary phosphoethanolamine, and ALPL gene sequencing.
    • Genetic counseling is complex due to variable inheritance and penetrance.

    Conclusions:

    • Hypophosphatasia is a severe disorder with diverse clinical outcomes.
    • Accurate diagnosis is crucial for appropriate management.
    • While current treatments are symptomatic, enzyme replacement therapy offers a promising future direction.