Human Genomics and Genomic Medicine

Tyrosinemia-1 is a very rare and severe inborn metabolic disorder affecting about 1 in 100,00 to 120,000 births worldwide. The pathophysiology of the disease is explained by the subsequent accumulation of tyrosine and its toxic metabolite in blood and tissues causing dysfunction of these organs, affecting mainly the liver and the kidney. The patient may develop acute liver failure in early infancy. The untreated survivors of the acute failure show liver cirrhosis, renal tubulopathy, rickets and hepatocellular carcinoma. The diagnosis of the disease depends on the clinical features and biochemical tests as detecting an increase in tyrosine and its metabolites in blood and urine. The main aim of this study was first; to report for the first time a family case of tyrosinemia in Najran city, the southern province of Saudi Arabia (KSA). Secondly; to increase the social and medical community awareness of the disease as consanguineous marriages are very common in this area.