Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan
| Autor: | Kenji Toshima, Yasuhiro Kuroda, T Watanabe, Eiji Takeda, Masuhide Miyao, Michinori Ito |
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| Rok vydání: | 1985 |
| Předmět: |
Adult
Male Proband Ammonia-Lyases Physiology Genes Recessive Japan Humans Mass Screening Medicine Histidine Histidine Ammonia-Lyase Amino Acid Metabolism Inborn Errors Genetics (clinical) Normal range Skin business.industry Genetic heterogeneity Genetic Carrier Screening Infant Newborn Histidase activity Histidinemia medicine.disease Kinetics Female business |
| Zdroj: | Japanese journal of human genetics. 30:287-295 |
| ISSN: | 0021-5074 |
| DOI: | 10.1007/bf01907966 |
| Popis: | Eleven patients with histidinemia, detected by screening new-born infants, were tentatively classified into two groups on the basis of their skin histidase activity: those with activity of less than 10% (group 1), and those with activity of about 20% (group 2) of the normal value. One of the patients in group 2 had two histidinemic siblings who were also classified into group 2. The skin histidase of the two histidinemic siblings were found to have altered kinetic properties. The skin histidase activities of the 22 parents of the histidinemic patients in groups 1 and 2 ranged from 26 to 82% and from 45 to 79%, respectively, of the average control value. All the 16 parents of the eight patients in group 1 and the six parents of the three probands of group 2 could be distinguished from the patients in groups 1 and 2, respectively, by their skin histidase activity as well as fasting level of serum histidine. In addition, 20 of 22 parents could be distinguished from normal controls by their skin histidase activity. However, two fathers of patients in groups 1 and 2 seemed to be normal, although the mothers were presumably heterozygous carriers. |
| Databáze: | OpenAIRE |
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