Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.

doi:10.1007/BF01799631

Article

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.

Journal of inherited metabolic disease - 1 Jan 1992

Chitayat D, Balbul A, Hani V, Mamer O A, Clow C, Scriver C R

Abstract excerpt

We describe an Ashkenazi Jewish family in which two adults, offspring of consanguineous parents, have persistent hypertyrosinaemia (770-1110 mumol/L; normal less than 110 mumol/L). The metabolic disorder in this family is apparently due to hepatic cytosolic tyrosine aminotransferase deficiency (h...

Topics

Adult
Amino Acid Metabolism, Inborn Errors
Consanguinity
Female
Genetic Variation
Humans
Jews
Male
Pedigree
Phenotype
Tyrosine
Tyrosine Transaminase

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.

Abstract excerpt

Topics

Discuss the evidence