It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
In 1932, more than 25 years before the discovery of the clinical entity HRT, Grace Medes (2,3) in the US described the biochemical findings in a 49 year old man with myasthenia gravis, under the title of "A new error of tyrosine metabolism: Tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine".
In three reports (4-6) between 1957 and 1959 we described the clinical, biochemical and pathological findings of this patient under the heading "An atypical case of tyrosinosis" with the subtitle "l-para-hydroxyphenyllactic aciduria".
According to the description of Tyrosinosis (Medes) and Tyrosinosis (Sakai) by Auerbach VII and DiGeorge AM in Nelson Textbook of Pediatrics 1975, (14) although 4-HPPD deficiency was proposed in both cases, the clinical differences between the two cases were as follows.
Tyrosinosis (Medes): In 1932, Medes reported a study of an adult male with a defect of tyrosine metabolism.
Tyrosinosis (Sakai): Another clinical disorder associated with a defect in 4-HPPD in infants and children was first described by Sakai.