دورية أكاديمية
A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types.
| العنوان: | A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types. |
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| المؤلفون: | Glew RH; Department of Biochemistry, School of Medicine, University of New Mexico, Albuquerque 87131., Gopalan V, Hubbell CA, Beutler E, Geil JD, Lee RE |
| المصدر: | Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 1991 Mar; Vol. 50 (2), pp. 108-17. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 2985192R Publication Model: Print Cited Medium: Print ISSN: 0022-3069 (Print) Linking ISSN: 00223069 NLM ISO Abbreviation: J Neuropathol Exp Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2016- : Oxford, England : Oxford University Press Original Publication: Lawrence, Ks : Association of the journal of neuropathology and experimental neurology |
| مواضيع طبية MeSH: | Gaucher Disease/*genetics, Child ; DNA/genetics ; Female ; Gaucher Disease/diagnosis ; Glucosylceramidase/genetics ; Humans ; Mutation ; Phosphatidylserines/pharmacology ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Spleen/enzymology ; Taurodeoxycholic Acid/pharmacology ; beta-Glucosidase/metabolism |
| مستخلص: | Systemic findings such as hepatosplenomegaly and typical Gaucher storage cells in a bone marrow aspirate led to the clinical diagnosis of Gaucher's disease in the seven-year old patient described in this report. On the basis of the lack of neurologic involvement the child was classified as having the Type 1, nonneurologic form of Gaucher's disease. After splenectomy glucocerebrosidase was extracted from her spleen for biochemical analysis. As expected, a marked deficiency of glucocerebrosidase activity was evident in the splenic extract, however her enzyme displayed anomalous behavior compared to other identical splenic preparations from documented Type 1 Gaucher's disease patients in that it failed to reconstitute with the acidic lipid phosphatidylserine. Using the polymerase chain reaction (PCR)-based color complementation assay and restriction endonuclease analysis, we compared the mutation genotype of this child with that of five other classical Type 1 patients. This analysis revealed that our patient alone was homoallelic for a T----C transition at position 1448 in the glucocerebrosidase cDNA that results in a 444Leu----Pro substitution in the glucocerebrosidase protein. The latter mutation genotype is normally associated with the neurologic phenotype, namely, the Types 2 and 3 forms of the disease. The relevance of the nature of polarity in clinical and biochemical analyses is discussed with regard to the phenotypic classification and the future clinical course of disease in the child. |
| معلومات مُعتمدة: | AM 31357 United States AM NIADDK NIH HHS |
| المشرفين على المادة: | 0 (Phosphatidylserines) 516-50-7 (Taurodeoxycholic Acid) 9007-49-2 (DNA) EC 3.2.1.21 (beta-Glucosidase) EC 3.2.1.45 (Glucosylceramidase) |
| تواريخ الأحداث: | Date Created: 19910301 Date Completed: 19910503 Latest Revision: 20190510 |
| رمز التحديث: | 20221208 |
| DOI: | 10.1097/00005072-199103000-00002 |
| PMID: | 1672707 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0022-3069 |
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| DOI: | 10.1097/00005072-199103000-00002 |