Searchable abstracts of presentations at key conferences in endocrinology

ea0085p10 | Bone | BSPED2022

Hypophosphatemic rickets as a key presenting feature of tyrosinemia type 1

Chandwani Manju , Usman Shehla , Law James , Denvir Louise , Sachdev Pooja , Randell Tabitha , Qureshi Isaque

QueenÂ’s Medical Centre, Nottingham, United KingdomTyrosinemia type-1 is a rare autosomal recessive disorder. It usually presents in an acute form in early infancy. Rarely, it can also present as a chronic form with gradual onset. The key presenting features are failure to thrive, liver dysfunction and/or Fanconi syndrome. We present a perplexing case of a 2-year-old girl with tyrosinemia type-1, who initially presented with failure to thrive and hypophosphatemic rickets w...