Elevated Alpha-Fetoprotein in Children and the Diagnosis of Tyrosinemia: The Contribution of Clinico-Biological Collaboration

Introduction: Type 1 hereditary tyrosinemia (HT1) is an autosomal recessive disorder that leads to toxic accumulation of tyrosine and its metabolites, causing hepatic stress that stimulates the production of alpha-fetoprotein (AFP). Objective: To assess the value of AFP as a biomarker for the diagnosis of tyrosinemia in children. Patients and Methods: This one-year prospective study was based on the review of medical records of patients hospitalized in the Metabolic Diseases Unit at the Abderrahim El Harouchi Mother-and-Child Hospital who presented with significantly elevated AFP levels. Results: A total of 21 cases with suspected HT1 were included. The most common reason for admission was jaundice (33.3%). In addition to laboratory testing, all children underwent abdominal ultrasound, which revealed five cases of biliary atresia. Serological assessment identified one case of viral hepatitis in an infant. One case each of cystic fibrosis and methylmalonic acidemia was diagnosed, and two patients were found to have ataxia-telangiectasia. The cause of hepatocellular failure remained unknown in five cases. HT1 was confirmed in seven patients. These children showed markedly elevated plasma tyrosine levels, supporting the clinical suspicion, and the diagnosis was confirmed by the detection of urinary succinylacetone. Conclusion: AFP remains a key biomarker in the diagnosis of HT1. Regular monitoring helps assess disease progression and evaluate treatment effectiveness.