Seven year old boy with abnormal behavior-methylmalonic aciduria and homocystinuria
Author
Source
Issue
Vol. 34, Issue 3 (30 Sep. 2012), pp.1-5, 5 p.
Publisher
King Hamad University Hospital
Publication Date
2012-09-30
Country of Publication
Bahrain
No. of Pages
5
Main Subjects
Topics
Abstract EN
Mutations in the methylmalonic aciduria and homocystinuria type c.394C > T (p.R 132X) can cause a defect in B12 metabolism, which could lead to neuropsychiatric disorder.
We report a seven year old boy with abnormal behavior.
Brain MRI showed T2 and FLAIR hyperintensities in the cerebral white matter.
The patient methylmalonic aciduria and homocystinuria type c gene was positive for c.394C > T (p.R 132X).
The clinical symptoms improved after Cobalamin replacement therapy.
American Psychological Association (APA)
Jadah, Rafat Hammad Surur. 2012. Seven year old boy with abnormal behavior-methylmalonic aciduria and homocystinuria. Bahrain Medical Bulletin،Vol. 34, no. 3, pp.1-5.
https://search.emarefa.net/detail/BIM-602891
Modern Language Association (MLA)
Jadah, Rafat Hammad Surur. Seven year old boy with abnormal behavior-methylmalonic aciduria and homocystinuria. Bahrain Medical Bulletin Vol. 34, no. 3 (Sep. 2012), pp.1-5.
https://search.emarefa.net/detail/BIM-602891
American Medical Association (AMA)
Jadah, Rafat Hammad Surur. Seven year old boy with abnormal behavior-methylmalonic aciduria and homocystinuria. Bahrain Medical Bulletin. 2012. Vol. 34, no. 3, pp.1-5.
https://search.emarefa.net/detail/BIM-602891
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-602891
