Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency

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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