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Previous Volume 304:197-204 January 22, 1981 Number 4 Next

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Abstract

Members of a family with dominant epidermolysis bullosa simplex were found to have a deficiency of galactosylhydroxylysyl glucosyltransferase (GGT), an enzyme catalyzing the glucosylation of galactosylhydroxylysyl residues in the biosynthesis of collagen. The enzyme's activity was low in serum, skin tissue, and cultured skin fibroblasts, although no abnormality was found in three other intracellular enzymes of collagen biosynthesis. Mixtures of serum samples from patients and healthy controls gave the expected GGT activity, indicating that the low values were not due to inhibitors. GGT deficiency was accompanied by decreased product formation in vivo, as shown by a markedly decreased urinary excretion of glucosylgalactosylhydroxylysine. Six of 12 affected members had definite GGT deficiency, and five had some evidence suggestive of this abnormality; 13 of 15 unaffected members had no such manifestations. No similar GGT deficiency was found in three other families with the same disease. We conclude that GGT deficiency may be etiologically related to this disease in some families, but that different defects must be the cause in other cases.

This article has been cited by other articles:

• Kirkham, J., Robinson, C., Strafford, S.M., Shore, R.C., Bonass, W.A., Brookes, S.J., Wright, J.T. (1996). The Chemical Composition of Tooth Enamel in Recessive Dystrophic Epidermolysis Bullosa: Significance with Respect to Dental Caries. FAKE JDR 75: 1672-1678 [Abstract]  
• Schaffer, S. R. (1992). Head and Neck Manifestations of Epidermolysis Bullosa. CLIN PEDIATR 31: 81-88 [Abstract]