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.
随便看	internal bubble control internal bubble cooling internal budget review internal buffer internal bunker industry association internal bus internal bus controller internal business agreement internal business process integration internal business process perspective internal bus unit internal cable distribution system internal cache internal calibration internal calibration repair center internal calibrations system internal call notification internal callus internal canthus internal capital adequacy assessment process internal capitalization internal capsule international golliwog collectors club international good dude day international good templar youth federation