A patient is investigated for renal failure. Which of the following condition is associated with boiled cabbage or rancid butter smelling urine in this patient?
Boiled cabbage or rancid butter smelling urine is seen in Tyrosinemia Type 1. Boiled cabbage smell occur due to substance 2 hydroxy butyric acid. Rancid butter smell occur due to 2 Keto 4 methiolbutyric acid. Tyrosinaemia type I is an inborn error of metabolism caused by deficiency of fumaryl acetoacetase which is the last enzyme in tyrosine degradation pathway. Accumulation of fumarylacetoacetate, maleylacetoacetate and succinylacetone causes liver and kidney damage.
Phenylketonuria
Tyrosinemia Type 1
Diabetic Ketoacidosis
Multiple carboxylase deficiency