Article
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
BMC research notes - 9 Sept 2013
Mohamed Sarar, Kambal Mohammed A, Al Jurayyan Nasir A, Al-Nemri Abdulrahman, Babiker Amir, Hasanato Rana, Al-Jarallah Abdullah S
Abstract excerpt
BACKGROUND: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms. CASE PRESENTATION: We report two Saudi siblings with TT1. Case 1 was a male infant who presented at 2 months old with fever, vomiting and refusal of feeding....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.