Hereditary tyrosinaemia | definition of hereditary tyrosinaemia by Medical dictionary
hereditary tyrosinaemia (1) Tyrosinaemia type I; hepatorenal tyrosinaemia, OMIM:276700.
(2) Tyrosinaemia type II; oculocutaneous tyrosinaemia, OMIM:276600.
(3) Tyrosinaemia type III, OMIM:276710.
hereditary tyrosinaemia A metabolic disorder due to an inherited deficiency of the enzyme fumarylacetoacetate hydrolase. There is progressive liver and kidney damage, low blood phosphate, RICKETS and sometimes severe neurological complications and muscle weakness. Tyrosine is excreted in the urine. In acute cases death occurs in the first year of life. Most cases are fatal unless treated. A diet low in tyrosine and phenylalanine is given.
References in periodicals archive
Treatment of hereditary tyrosinaemia
type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
Neonatal screen for hereditary tyrosinaemia type I [Letter].