Background: Hereditary tyrosinemia type 1 (HT-1) is a rare metabolic and genetic disorder due to deficiency of enzyme fumarylacetoacetate hydrolase (FAH) and impaired tyrosine break down resulting in accumulation of tyrosine and succinyl acetone with consequent damage to tissue and organs. Delay in diagnosis results in liver and kidney failure, abnormalities of the nervous system and increased risk of liver cancer.
Clinical Description: A child treated multiple times as hypophosphatemic /refractory rickets elsewhere; presented with frequent fractures, significant involvement of liver and kidney, raised Alfa-fetoprotein levels, elevated urine Succinyl acetone levels was finally diagnosed as chronic HT-1 with features of advanced disease at the age of 2 yr and 5 months. Evaluation of growth failure further revealed raised tTG IgA levels. Neonatal screening with serum or urine succinyl acetone could diagnose him early and the multiple fractures and growth failure prevented.
Management: Genetic counselling, dietary advice, non-availability of Nitisinone, management of fractures, confirmation of Celiac disease in a child with coagulopathy are challenging issues.
Conclusion: Algorithm for diagnosis and management of HT-1 should evolve. Refractory Rickets needs to be evaluated carefully and associated hepatorenal involvement should be given special consideration.
Keywords
Hereditary Tyrosinemia Type 1; Celiac Disease; Fumarylacetoacetate Hydrolase; Newborn Screening