Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: Difference between revisions

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==Overview==
==Overview==
Xylosylprotein 4-beta-galactosyltransferase deficiency is a variant of [[Ehlers-Danlos syndrome]]
Xylosylprotein 4-beta-galactosyltransferase deficiency is a variant of [[Ehlers-Danlos syndrome]].
 
==Pathophysiology==
This disease is caused by mutation in the [[gene]] encoding [[xylosylprotein 4-beta-galactosyltransferase]], which catalyzes the second glycosyl transfer reaction in the assembly of the dermatan sulfate chain, leading to defective synthesis of proteodermatan sulfate (PDS).
 
==Diagnosis==
===Symptoms===
* Wrinkling of the skin over the face
* Delayed wound healing
 
===Physical examination===
====Appearance of the patient====
Patients with this disease are short statured with an aged appearance.
 
====Skin====
* Loose but elastic skin
* Scanty scalp hair
 
====Head====
* Defective deciduous teeth
* Wrinkled facies
 
====Neurologic====
* Delayed mental development / [[mental retardation]]
 
====Extremities====
* Hypermobile joints
* Hypotonic muscles
 
===X-ray===
* [[Osteopenia]] of all bones
 
 
==References==
 
{{reflist|2}}
 
 
 
[[Category:Disease]]
[[Category:Genetics]]
[[Category:Grammar]]






==Pathophysiology==


This disease is caused by mutation in the [[gene]] encoding [[xylosylprotein 4-beta-galactosyltransferase]].
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Latest revision as of 14:57, 27 July 2012

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Ehler's Danlos syndrome - progeroid form

Overview

Xylosylprotein 4-beta-galactosyltransferase deficiency is a variant of Ehlers-Danlos syndrome.

Pathophysiology

This disease is caused by mutation in the gene encoding xylosylprotein 4-beta-galactosyltransferase, which catalyzes the second glycosyl transfer reaction in the assembly of the dermatan sulfate chain, leading to defective synthesis of proteodermatan sulfate (PDS).

Diagnosis

Symptoms

  • Wrinkling of the skin over the face
  • Delayed wound healing

Physical examination

Appearance of the patient

Patients with this disease are short statured with an aged appearance.

Skin

  • Loose but elastic skin
  • Scanty scalp hair

Head

  • Defective deciduous teeth
  • Wrinkled facies

Neurologic

Extremities

  • Hypermobile joints
  • Hypotonic muscles

X-ray


References



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