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Phosphorylation01:02

Phosphorylation

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The addition or removal of phosphate groups from proteins is the most common chemical modification that regulates cellular processes. These modifications can affect the structure, activity, stability, and localization of proteins within cells as well as their interactions with other proteins.
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Roles of Electrolytes: Calcium and Phosphate01:27

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Bone Disorders01:29

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Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
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[Hypophosphatasia].

A Winckert1, L Vranken1, F Boemer2

  • 1Service de biologie clinique, CHU de Liège, Site Notre-Dame des Bruyères, Chênée, Belgique.

Revue Medicale De Liege
|December 23, 2017
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is a rare genetic disorder affecting bone mineralization due to low alkaline phosphatase (ALP) activity. This study aimed to identify HPP patients via biochemical assays but found diagnosing milder adult forms challenging.

Keywords:
Alkaline phosphataseAsfotase alfaBone fragilitiesHypomineralizationHypophosphatasia

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Area of Science:

  • Biochemistry
  • Genetics
  • Orthopedics

Background:

  • Hypophosphatasia (HPP) is a rare genetic disorder characterized by deficient alkaline phosphatase (ALP) activity.
  • HPP leads to skeletal mineralization defects, including bone fragility, with varying severity.
  • The condition's prevalence is likely underestimated, necessitating a multidisciplinary diagnostic approach.

Purpose of the Study:

  • To retrospectively screen biochemical assays and patient history for potential Hypophosphatasia (HPP) identification.
  • To facilitate genetic screening for suspected HPP cases.
  • To assess the diagnostic challenges of milder HPP forms in adults.

Main Methods:

  • Retrospective screening of biochemical assays.
  • Review of clinical history (anamnesis).
  • Multidisciplinary diagnostic approach integrating biochemical, clinical, and radiological data.

Main Results:

  • No cases of Hypophosphatasia (HPP) were formally identified through the screening.
  • The study highlights the difficulties in diagnosing milder HPP forms, particularly in adults.
  • Biochemical assays and anamnesis alone were insufficient for definitive diagnosis in this cohort.

Conclusions:

  • Diagnosing mild Hypophosphatasia (HPP) forms, especially in adults, presents significant challenges.
  • A combination of biochemical, clinical, and radiological assessments is crucial for accurate HPP diagnosis.
  • Further refinement of diagnostic strategies is needed to improve the identification of underestimated HPP cases.