Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria | ||
| Journal of High Institute of Public Health | ||
| Article 15, Volume 35, Issue 1, January 2005, Pages 203-214 | ||
| Document Type: Original Article | ||
| DOI: 10.21608/jhiph.2005.180980 | ||
| Author | ||
| Amina El-Gezeery* | ||
| Human Genetics Department, Medical Research Institute, University of Alexandria, Egypt | ||
| Abstract | ||
| One thousand patients referred to genetics clinic, Medical Research Institute, Alexandria, were subjected to biochemical genetic studies and clinical genetic examination to estimate the frequency of inborn errors of metabolism [IEM]. It was found that 70 [7%] patients had IEM. Of these, 34 [48.6%] had aminoacidopathies, 3 [4.3%] had galactosemia, and 33 [47.1%] had lysosomal storage disorders. Phenylketonuria was the most frequent IEM [37.2%]. The rate of consanguinity among parents of patients with IEM was high [77.1%] with 58.6% first cousins. Positive family history of more than one affected child was detected in 22 [31.4%] families of the patients with IEM. Detection of IEM is important because it may allow a specific treatment for the patients and Proper genetic counseling for the family. | ||
| Keywords | ||
| Inborn Errors; Metabolism; Genetic Clinic; Alexandria | ||
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