Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate translocase with consequent accumulation of glycogen. The purpose of this study is to report a case affected by glycogen storage disease type Ib in which unusual oral findings were evident and to review the pertinent literature. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, hyperlacticacidemia, neutropenia, and neutrophilic dysfunction causing increased susceptibility to recurrent infections. Common intraoral manifestations are dental caries, gingivitis, periodontal disease, delayed dental maturation and eruption, oral bleeding diathesis, and oral ulcers. Conversely, unusual oral lesions were observed in this case as hyperplastic-hypertrophic gingiva and giant cell granulomatous epulis. The treatment with granulocyte colony-stimulating factor markedly increased the neutrophil counts and reduced the frequency of infections and inflammations. Proper evaluation of the patient's oral condition, a program of preventive measures, and suitable medical consultation are important to minimize and avoid long-term complications.
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PMID:Unusual oral manifestations and evolution in glycogen storage disease type Ib. 1569 44

Mauriac syndrome is a rare condition that affects people with uncontrolled diabetes. The case history of a 17-year-old female patient diagnosed with Mauriac syndrome and concurrently suffering from type 1 diabetes mellitus (T1DM), stunted growth, hepatomegaly, and severe periodontal disease is described. Non-surgical periodontal therapy was the treatment provided. Severe periodontal destruction was seen in conjunction with the unique features of this syndrome, such as hepatomegaly, dwarfism, moon-shaped face, cushingoid fat deposition, delayed puberty, and brittle diabetes. Treatment resulted in decreased plaque and gingival scores. A bi-directional relationship has been established between diabetes mellitus and periodontal disease and there is an increasing emphasis on perio-systemic interrelationships. Given the effect that such systemic disorders have on periodontal health, periodontists should be involved in the early diagnosis and treatment of such patients.
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PMID:Periodontal findings in a patient with Mauriac syndrome: a case report. 2241 89