View source for Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency

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'''''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====
* 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]]




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