Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis

Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis

Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in the early neonatal period. We report a novel homo...

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Bibliographic Details
Main Authors: Nida Fatima Sakrani, Hala Kul Hasan, Ahmed Ibrahim, Jamal Al Jubeh, Amal Al Teneiji
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Propionic acidemia
Thyrotoxicosis
Hyperthyroidism
Hyperammonemia
Neonate
Metabolic acidosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921001002

Internet

http://www.sciencedirect.com/science/article/pii/S2214426921001002

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