Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency

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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

• Delayed mental development / mental retardation

Extremities

• Hypermobile joints
• Hypotonic muscles

X-ray

• Osteopenia of all bones

References

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