Abstract

Genetic tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder characterized by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), leading to the accumulation of toxic metabolites such as succinylacetone and tyrosine. This metabolic imbalance not only affects liver function but also impacts overall nutritional status, particularly in pediatric patients. This study aimed to investigate the correlation between amino acid profiles and nutritional outcomes in children affected by HT1. A total of [insert number] pediatric patients diagnosed with HT1 were enrolled in the study, and their amino acid levels were analyzed using high-performance liquid chromatography (HPLC) or tandem mass spectrometry (MS/MS). Anthropometric measurements, dietary intake, and biochemical markers of nutritional status were also assessed.

Our results revealed significant alterations in amino acid profiles, with elevated levels of tyrosine and its metabolites observed in all patients. Correlation analysis demonstrated a negative association between tyrosine levels and markers of nutritional status, including serum albumin, prealbumin, and anthropometric parameters such as weight-for-age z-scores and body mass index (BMI). Moreover, dietary restrictions aimed at reducing tyrosine intake were associated with improved nutritional outcomes in patients following a tyrosine-restricted diet. In conclusion, our findings highlight the importance of monitoring amino acid levels, particularly tyrosine, and implementing dietary interventions to optimize nutritional status and overall health outcomes in children with HT1. Further research is warranted to explore the longterm effects of dietary management on growth, development, and metabolic control in this patient population.