Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multiple platelet abnormalities were found in a patient with bleeding symptoms. The platelet content of ADP and PF 4 was decreased and the uptake of 14C-serotonin was impaired. The content of acid phosphatase, beta-glucuronidase and beta-N-acetylglucosaminidase was, however, normal and these enzymes were normally released or made available by bovine fibrinogen or ADP. There was no adhesion of platelet to collagen, which also failed to induce reptilase clot retraction, platelet aggregation and release of any of the platelet constituents. The platelets therefore exhibited signs of thrombocytopathy of a combined type with a decreased storage pool as well as a qualitative dysfunction with impaired reactivity to collagen.
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PMID:A new abnormality of platelet functions. Association of storage pool disease (thrombocytopathia A) with impaired reactivity of platelets to collagen. 5 81

Platelet function was evaluated in 12 patients with the attention deficit disorder and lifelong history of easy bruising. Aggregation and 14C-serotonin secretion studies in platelet-rich plasma in response to adenosine diphosphate (ADP), epinephrine, and arachidonic acid did not reveal striking abnormalities. Secretion of adenosine triphosphate (ATP), ADP, beta-hexosaminidase, and beta-glucuronidase by gel-filtered platelets in response to the divalent cation ionophore A23187 and low concentrations of thrombin (less than or equal to 0.1 U/ml) was impaired in patients as compared to normals. The aggregation response to A23187 (4 microM) was absent in 8 of the 12 patients. The total stores of the secretable constituents, the retention of incorporated 14C-serotonin, and the arachidonate metabolism of the platelets were normal. Our findings suggest a new platelet disorder with impaired secretion mechanism, without storage pool deficiency or impaired arachidonate metabolism. The secretion defect in platelets represents a tissue disorder in a functional psychiatric disease. We refocus attention on the role of platelets as a model for neurons in functional disorders, with emphasis on secretion mechanisms rather than amine uptake, storage, and metabolism.
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PMID:Platelet secretion defect in patients with the attention deficit disorder and easy bruising. 669 42