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.

单词	hereditary tyrosinaemia
释义	hereditary tyrosinaemia 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.
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