Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients : six years experience
Joint Authors
Fateen, Ekram M.
Jawdah, Amr
Boehles, H.
Sewell, A.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 10, Issue 2 (30 Nov. 2009), pp.186-197, 12 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2009-11-30
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Topics
Abstract EN
Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases.
Subjects and Methods: 117 (79 males ? 67.5 % and 38 females ? 32.5 %) high risk patients with signs and symptoms of a metabolic disorder were studied, their ages ranged from 3 days to 12 years.
Analysis of urine organic acids by gas chromatography/mass spectrometry (GC/MS) was performed to all patients.
Results: 22(18.8 % of the total) cases were diagnosed with different types of aminoacidopathies or organic acidurias.
The disease profile showed increased lactate in 12 cases (54 %), glutaric aciduria type I 3cases (13 %), phenylketonuria 2 cases (9 %), maple syrup urine disease 1 case (4.5 %), glutaric aciduria type II 1 case (4.5 %), methylmalonic aciduria 1 case (4.5 %), Canavan disease 1 case (4.5 %) and non ketotic hyperglycemia 1 case (4.5 %).
Conclusion: The results demonstrate the importance of the organic acid profile in the diagnosis of high risk patients.
The diagnosed organic acid pattern in this study showed that 10.2 % of the patients had a mitochondrial energy defect.
American Psychological Association (APA)
Fateen, Ekram M.& Jawdah, Amr& Boehles, H.& Sewell, A.. 2009. Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients : six years experience. The Egyptian Journal of Medical Human Genetics،Vol. 10, no. 2, pp.186-197.
https://search.emarefa.net/detail/BIM-203680
Modern Language Association (MLA)
Fateen, Ekram M.…[et al.]. Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients : six years experience. The Egyptian Journal of Medical Human Genetics Vol. 10, no. 2 (Nov. 2009), pp.186-197.
https://search.emarefa.net/detail/BIM-203680
American Medical Association (AMA)
Fateen, Ekram M.& Jawdah, Amr& Boehles, H.& Sewell, A.. Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients : six years experience. The Egyptian Journal of Medical Human Genetics. 2009. Vol. 10, no. 2, pp.186-197.
https://search.emarefa.net/detail/BIM-203680
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 195-197
Record ID
BIM-203680