Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chitotriosidase is a chitinase that is massively expressed by lipid-laden tissue macrophages in man. Its enzymatic activity is markedly elevated in serum of patients suffering from lysosomal lipid storage disorders, sarcoidosis, thalassemia, and visceral Leishmaniasis. Monitoring of serum chitotriosidase activity in Gaucher disease patients during progression and therapeutic correction of their disease is useful to obtain insight in changes in body burden on pathological macrophages. However, accurate quantification of chitotriosidase levels by enzyme assay is complicated by apparent substrate inhibition, which prohibits the use of saturating substrate concentrations. We have therefore studied the catalytic features of chitotriosidase in more detail. It is demonstrated that the inhibition of enzyme activity at excess substrate concentration can be fully explained by transglycosylation of substrate molecules. The potential physiological consequences of the ability of chitotriosidase to hydrolyze as well as transglycosylate are discussed. The novel insight in transglycosidase activity of chitotriosidase has led to the design of a new substrate molecule, 4-methylumbelliferyl-(4-deoxy)chitobiose. With this substrate, which is no acceptor for transglycosylation, chitotriosidase shows normal Michaelis-Menten kinetics, resulting in major improvements in sensitivity and reproducibility of enzymatic activity measurements. The novel convenient chitotriosidase enzyme assay should facilitate the accurate monitoring of Gaucher disease patients receiving costly enzyme replacement therapy.
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PMID:Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. 1289 Jun 86

An increasing number of Southeast Asian immigrants have come to North America. Physicians who care for this population should be aware of the high prevalence of hematologic disorders and develop an approach to their diagnosis and management. Malaria and the hematologic sequelae, glucose-6-phophate dehydrogenase deficiency, the thalassemia syndromes, Southeast Asian ovalocytosis, visceral leishmaniasis, HIV infection, and iron-deficiency anemia, all of which may pertain to these patients, are reviewed in this article.
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PMID:Hematologic problems in immigrants from Southeast Asia. 1551 22

This prospective study analyzes the clinical features and histopathological findings in liver biopsies of pediatric patients presenting to the hospital with liver disease during a 10 year period. Only those patients in whom liver biopsy was performed for a tissue diagnosis were included. Fifty patients were investigated, all below the age of 12 years, of whom 36 were male and 14 female. Thirty-two were of neonatal-infantile group, 11 had a diagnosis of neonatal giant cell he hepatitis of infections origin and an intact biliary tree. Two had septic shock and one had leishmaniasis. The remaining 18 patients of the neonatal-infantile group constituted five case of glycogen storage disease, six of infantile obstructive cholangiopathy (biliary atreasia), four of fatty change and one each of congenital hepatic fibrosis, neuroblastoma and nonspecific reactive hepatitis. The eighteen older children had the following diagnoses: thalassemia in five, sickle cell disease in four, two each of Reye syndrome and hepatoblastoma. The remaining were one each of glycogen storage disease, Rotor syndrome, cirrhosis, fatty change and non-Hodgkin lymphoma (NHL). These findings are presented and discussed.
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PMID:Pediatric liver disease in the eastern province of Saudi Arabia: A clinicopathological study. 1758 93

A 37-year-old splenectomized man affected by beta-thalassemia and chronic hepatitis, recently treated with pegylated interferon-alpha (Peg-IFN), was admitted because of elevated fever lasting 3 months and unresponsiveness to broad-spectrum antibiotics. Laboratory studies showed white blood cell and platelet counts within the normal range but lower than observed before Peg-IFN treatment and an elevated erythrocyte sedimentation rate. The blood transfusion rate was reported to be increased compared with the period preceding Peg-IFN treatment. A diagnosis of visceral leishmaniasis (VL) was made after Leishmania amastigotes were identified from Giemsa-stained smears of bone marrow aspirates. Cure occurred after liposomal amphotericin B was administered. Symptoms of VL may be difficult to distinguish from the manifestations of Peg-IFN intolerance. We suggest that VL must be suspected in any immunodepressed patient with an unexplained fever and a history of exposure in an endemic area.
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PMID:Distinguishing visceral leishmaniasis from intolerance to pegylated interferon-alpha in a thalassemic splenectomized patient treated for chronic hepatitis C. 1860 57