Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.1 (aspartate aminotransferase)
 21,665 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Weary-Kindler syndrome is a rare and poorly understood genetic disorder that has manifestations of both epidermolysis bullosa and poikiloderma congenitale. There are approximately 70 cases documented in the past 40 years but no cases appear in the dental literature, although dental findings have been discussed superficially in dermatological and pediatric publications. This case reports on the periodontal findings and treatment for a 16-year-old female diagnosed with the syndrome. Early exfoliation of deciduous teeth, severe periodontal bone loss around many permanent teeth, and fragile bleeding gingiva were key features. Microbiological testing revealed an absence of Actinobacillus actinomycetemcomitans and low levels of other commonly accepted periodontal pathogens. Tests for inflammation, including AST and elastase, were positive prior to therapy and greatly decreased after mechanical root instrumentation. A beneficial effect of non-surgical periodontal therapy was observed in the short-term follow-up.
 ...
PMID:Early-onset periodontitis associated with Weary-Kindler syndrome: a case report. 891 Aug 40