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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Campos, Derbis Monaga, Madelyn González, Ernesto C. Herrera, Darlenis |
| Description | Author Affiliation: Campos D ( Department of Biochemical Genetics, National Center of Medical Genetics, 146 Street No. 3102, Havana, Cuba. Electronic address: derbisch81@gmail.com.); Monaga M ( Department of Biochemical Genetics, National Center of Medical Genetics, 146 Street No. 3102, Havana, Cuba.); González EC ( Neonatal Research Laboratory, Center of Immunoassays, 134 Street and 25 Ave, Havana, Cuba.); Herrera D ( Department of Biochemical Genetics, National Center of Medical Genetics, 146 Street No. 3102, Havana, Cuba.) |
| Abstract | BACKGROUND: Mucopolysaccharidosis I (MPS I) is a genetic disorder caused by deficiency of L-iduronidase (IDUA) activity. Heterozygote screening is a highly requested service by risk families; however, determination of IDUA activity alone is not sufficient to discriminate between heterozygotes and normal individuals because a significant overlap occurs between them. The aim of this study was to characterize the enzyme eluted from heterozygote's dried blood samples and determine if there are differences with that of normal individuals. METHODS: We determined Km, Vmax and the thermal stability of the enzyme at 50 °C. RESULTS: Vmax from heterozygotes (7.28 ± 2.72 µmol/l blood/h) was significantly different than the obtained in controls (10.52 ± 2.05 µmol/l blood/h), while their Km were similar: 0.633 ± 0.339 mmol/l and 0.672 ± 0.246 mmol/l, respectively. After a 12 h pre-incubation period, IDUA activity in controls was significantly lower compared to heterozygotes. CONCLUSIONS: IDUA eluted from dried blood spots of heterozygotes differs from that of controls in terms of Vmax and thermal stability. These parameters can be used as an important tool for the detection of carriers for MPS I. This is the first report describing a differential behavior of these parameters for a lysosomal enzyme obtained from dried blood. |
| File Format | HTM / HTML |
| ISSN | 00098981 |
| Volume Number | 430 |
| e-ISSN | 18733492 |
| Journal | Clinica Chimica Acta |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2014-03-20 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Clinical Chemistry Discipline Laboratory Medicine Dried Blood Spot Testing Heterozygote Detection Iduronidase Genetics Metabolism Mucopolysaccharidosis I Enzymology Antiporters Enzyme Stability Humans Blood Chemistry Diagnosis Temperature Journal Article |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry Biochemistry |
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