Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations followed by loss of function of enzymes or transporters that are localised in the acidic environment of the lysosome may result in degradation of many substrates, such as glycosaminoglycans, glycosphingolipids, glycogen, cholesterol, oligosaccharides, glycoproteins, and peptides, or the excretion of the products degraded by the lysosome. Our aim was to identify the oral signs and symptoms of Fabry disease and Pompe disease from a systematic review made using MEDLINE/PubMed, and a hand search for relevant articles, following the PRISMA guidelines. Both diseases show various craniofacial and oral changes, including supernumerary teeth, dental agenesis, angiokeratoma, and telangiectases in Fabry disease; and macroglossia, teeth fusion, and taurodontism in Pompe disease. Common clinical signs of Fabry disease include hyposalivation, hypohidrosis, and xerophthalmia, and a generally reduced physical resilience was apparent in patients with Pompe disease. Oral and craniofacial changes in patients with both diseases extend over their entire lifetime and can be detected even in an infant. Lysosomal storage diseases should be taken into consideration in the differential diagnosis of relevant diverse symptoms, because treatment, when available, is most effective when started early. The main therapeutic concepts are enzymatic replacement for Pompe disease, whereas patients with Fabry disease require additional oral chaperone treatment or enzyme replacement.
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PMID:Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease. 3140