hypertyrosinemia

См. также в других словарях:

• hypertyrosinemia — SYN: tyrosinemia. * * * hy·per·ty·ro·sin·emia (hi″pər ti″ro sĭ neґme ə) 1. excessive levels of tyrosine in the blood, as occurs in a variety of disorders of tyrosine catabolism. See also tyrosinemia. 2. tyrosinemia …   Medical dictionary

• Tyrosinemia — A genetic metabolic disorder involving the amino acid tyrosine. The enzymatic basis of the disease is deficiency of an enzyme called fumarylacetoacetic hydrolase, the last enzyme in the tyrosine pathway. Tyrosinemia is inherited as an autosomal… …   Medical dictionary

• hawkinsinuria — haw·kin·sin·u·ria (haw″kin sin uґre ə) a rare autosomal dominant disorder caused by heterozygous mutation in the HPD gene (locus: 12q24 qter), which encodes 4 hydroxyphenylpyruvate dioxygenase, an enzyme important in tyrosine… …   Medical dictionary

• tyrosinemia type III — an extremely rare autosomal recessive disorder caused by homozygous mutation in the HPD gene (locus: 12q24 qter), which encodes 4 hydroxyphenylpyruvate dioxygenase, an enzyme important in tyrosine catabolism. It is characterized by… …   Medical dictionary