Background: Despite the improvement of anesthetic-related modalities, the incidence of unintended intraoperative awareness remains at around 0.005-0.038%.
View Article and Find Full Text PDFUnlabelled: Hereditary tyrosinemia type I (HT-I) is an autosomal recessive inborn error of tyrosine metabolism, caused by mutation(s) in the gene encoding for fumarylacetoacetate hydrolase (FAH) enzyme. The authors report a Thai boy who presented at two months of age with liver failure. HT-I was diagnosed based on the presence of succinylacetone in urine and homozygous R237X mutations of FAH gene.
View Article and Find Full Text PDF