Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2

Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2

Background: Sudden unexplained postnatal collapse (SUPC) is a condition in which a newborn born at term or near term, and an Apgar score >8 at 5 min and deemed healthy, presents with sudden unexpected cardiorespiratory collapse within the 1st week of life. This can be due to multiple, heterogeneo...

Full description

Bibliographic Details
Main Authors: Karthikeyan Kadirvel, Adarsh Bagali, Sumathisri Ramachandran
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Indian Pediatrics Case Reports
Subjects:
compound heterozygote
hyperammonemia
hypoglycemia
metabolic acidosis
sudden unexpected postnatal collapse
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=4;spage=240;epage=243;aulast=Kadirvel

Internet

http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=4;spage=240;epage=243;aulast=Kadirvel

Similar Items