Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency
Introduction
Synonyms and keywords: Ehler’s Danlos syndrome – progeroid form
Overview
Overview
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).
Diagnosis
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
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]