Diagnosis and treatment of tyrosinosis

Abstract

This paper describes the diagnosis of tyrosinosis in a girl aged 10 months. Her subsequent pro-gress after the institution of a diet low in phenyl-alanine and tyrosine has been good, and details of her treatment are discussed. Tyrosinosis is an inherited metabolic disorder characterized by cirrhosis, severe hypophosphat-aemic rickets, renal tubular defects, and a derange-ment of tyrosine metabolism. The metabolic products arising from the deranged tyrosine metabolism point to a lack of p-hydroxyphenyl-pyruvate oxidase (Halvorsen, 1967). Case History The patient, the fifth child of unrelated parents, was born at full term after a normal pregnancy and labour