caa a22 4500 469045280 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799631 doi (NATIONALLICENCE)springer-10.1007/BF01799631 Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus [Elektronische Daten] [D. Chitayat, A. Balbul, V. Hani, O. Mamer, C. Clow, C. Scriver] Summary: We describe an Ashkenazi Jewish family in which two adults, offspring of consanguineous parents, have persistent hypertyrosinaemia (770-1110 µmol/L; normal < 110 µmol/L). The metabolic disorder in this family is apparently due to hepatic cytosolic tyrosine aminotransferase deficiency (hereditary tyrosinaemia, type II; McKusick, 276600), because it is associated with the oculocutaneous manifestations of Richner-Hanhart syndrome. The association of this syndrome with hereditary tyrosinaemia type II is presumed to be constant. It is not in this family. The affected female sib (age 41 years) has hypertyrosinaemia and oculocutaneous signs; the brother (age 39 years) has hypertyrosinaemia but no oculocutaneous disease. Both sibs have two children; none has signs of a metabolic fetopathy. Maternal hypertyrosinaemia and maternal hyperphenylalaninaemia evidently constitute different risk factors for the fetus. Paternal hypertyrosinaemia is apparently not a risk to male infertility. SSIEM and Kluwer Academic Publishers, 1992 Chitayat D. A-707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada aut Balbul A. Department of Dermatology, Montreal General Hospital, Montreal, Quebec, Canada aut Hani V. The Center for Human Genetics, McGill University, Montreal, Quebec, Canada aut Mamer O. The MRC Biomedical Mass Spectroscopy Unit, McGill University, Montreal, Quebec, Canada aut Clow C. A-707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada aut Scriver C. A-707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 198-203 0141-8955 15:2<198 1992 15 10545 https://doi.org/10.1007/BF01799631 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799631 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chitayat D. A-707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Balbul A. Department of Dermatology, Montreal General Hospital, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Hani V. The Center for Human Genetics, McGill University, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Mamer O. The MRC Biomedical Mass Spectroscopy Unit, McGill University, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Clow C. A-707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Scriver C. A-707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 198-203 0141-8955 15:2<198 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer