ANALYSIS OF FREQUENCY OF PHENYLKETONURIA AMONG INSTITUTIONALIZED

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

VALIAN S.; BARAHIMI E.; SHAMORADGOLI M.; MOEINI H.; HOSEINI M.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Download Full-Text

Persian Verion

View:

2,417

Download:

Cites:

Information Journal Paper

Title

ANALYSIS OF FREQUENCY OF PHENYLKETONURIA AMONG INSTITUTIONALIZED

Author(s)

Keywords

PHENYL KETONURIAQ3

PHENYLALANINE HYDROXYLASEQ3

GUTHERI TESTQ4

SCREENINGQ3

Abstract

Introduction: Phenylketonuria (PKU) is a genetic disease, which is caused by deficiency in PHENYLALANINE HYDROXYLASE (PAH) enzyme. Untreated patients will develop a severe mental retardation, which is irreversible. In this study, the incidence of the PKU disease among isolated mentally retarded residents in institutions in Isfahan, was investigated.Methods: A total number of 1541 patients were involved in the study. Of the patients studied, 611 with no known reason for their mental retardation were chosen for blood sampling. Blood samples were collected on filter papers and examined by Gutheri bacterial inhibition assay (GBIA), which is specific for PKU In patients with positive test, the serum phenylalanine was quatitavely analyzed using high pressure liquid chromatography, HPLC.Results: Among the patients examined, 33 were found positive. Quantitative analysis of phenylalanine allowed classification of the patients, indicating 600 with classical, 36% with moderate, and 3% with mild type of PKU Furthermore; it was found that in 68% of the cases, parents are third grade relative.Discussion: The results obtained in this SCREENING study indicated that 2.1% of the patients in the institutions for mentally related in Isfahan suffered from PKU The incidence of the disease is relatively high compare to the reports from other countries. Since, a large number of patients (68%) are the results of consanguineous marriages, this kind of marriage could be considered as one of the important factors involved in the prevalence of PKU in Isfahan.

Cites

No record.

References

No record.

Cite

APA: Copy

VALIAN, S., BARAHIMI, E., SHAMORADGOLI, M., MOEINI, H., & HOSEINI, M.. (2003). ANALYSIS OF FREQUENCY OF PHENYLKETONURIA AMONG INSTITUTIONALIZED. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 8(3), 23-26. SID. https://sid.ir/paper/26717/en

Vancouver: Copy

VALIAN S., BARAHIMI E., SHAMORADGOLI M., MOEINI H., HOSEINI M.. ANALYSIS OF FREQUENCY OF PHENYLKETONURIA AMONG INSTITUTIONALIZED. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2003;8(3):23-26. Available from: https://sid.ir/paper/26717/en

IEEE: Copy

S. VALIAN, E. BARAHIMI, M. SHAMORADGOLI, H. MOEINI, and M. HOSEINI, “ANALYSIS OF FREQUENCY OF PHENYLKETONURIA AMONG INSTITUTIONALIZED,” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 8, no. 3, pp. 23–26, 2003, [Online]. Available: https://sid.ir/paper/26717/en

Related Journal Papers