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== | ==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) . | 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== | ==Diagnosis== | ||
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* Loose but elastic skin | * Loose but elastic skin | ||
* Scanty scalp hair | * 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]] | |||
{{WH}} | |||
{{WS}} | |||
Latest revision as of 14:57, 27 July 2012
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
- Delayed mental development / mental retardation
Extremities
- Hypermobile joints
- Hypotonic muscles
X-ray
- Osteopenia of all bones
References