Article Title: A Case Report of a Female Child with Tyrosinemia Type I in Southern Philippines During the Covid-19 Pandemic
Author: Tracy Eloise Mae L Sta Maria, Conchita Abarquez and Genelynne J Beley*
Published Date: January 18, 2023
Tyrosinemia type I (also called Hepatorenal Tyrosinemia) is a rare autosomal recessive metabolic disorder that presents with a severe progressive disease course leading to premature death if not treated. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH) which is needed in the final breakdown of tyrosine. The FAH gene is mapped in chromosome 15q25.1. The manifestations begin in the first month of life and the earliest and major effect of the disease is on the liver. This case report discusses one of the first few cases of Tyrosinemia type 1 in the Southern Part of the Philippines diagnosed by newborn screening and monitored by the newborn screening continuity clinic.