دوره 8، شماره 3 - ( 5-1399 )                   جلد 8 شماره 3 صفحات 181-188 | برگشت به فهرست نسخه ها


XML English Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Zamanfar D, Keyhanian E, Ghazaiean M, Rostami Maskopaii S. The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review. J. Pediatr. Rev. 2020; 8 (3) :181-188
URL: http://jpr.mazums.ac.ir/article-1-257-fa.html
The Chronic Intermittent Form of Isovaleric Acidemia With Staphylococcal Scalded Skin Syndrome: A Case Report and Literature Review. Journal of Pediatrics Review. 1399; 8 (3) :181-188

URL: http://jpr.mazums.ac.ir/article-1-257-fa.html


چکیده:   (1889 مشاهده)
Isovaleric Acidemia (IVA) is an autosomal recessive Inborne Error of Metabolism (IEM), i.e., caused by the mutation of isovaleric-CoA dehydrogenase. Two phenotypes of IVA are reported; acute and chronic.
The case was a 3-year-old boy with chronic intermittent presentation. Elevated 3-hydroxybutyric acid and isovaleric glycine in urinary acid profile was reported. We also performed a brief review about the presented case; IVA in international databases for English language articles on children. 
Several manners exist to screen IVA patients and the best one is GC-MS in urine analysis. The prognosis of the disease depends on the early interventions.
متن کامل [PDF 449 kb]   (445 دریافت)    
نوع مطالعه: Case Report and Review of Literature |
دریافت: 1398/6/5 | پذیرش: 1398/8/11 | انتشار: 1399/4/11

ارسال نظر درباره این مقاله : نام کاربری یا پست الکترونیک شما:
CAPTCHA

کلیه حقوق این وب سایت متعلق به Journal of Pediatrics Review می باشد.

طراحی و برنامه نویسی : یکتاوب افزار شرق

© 2021 All Rights Reserved | Journal of Pediatrics Review

Designed & Developed by : Yektaweb