Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany — a study of 3000 people

✍ Scribed by Stefan W. Eber; Manfred Dünnwald; Günter Heinemann; Thomas Hofstätter; Hans M. Weinmann; Bernd H. Belohradsky

• Book ID: 104707301
• Publisher: Springer
• Year: 1984
• Tongue: English
• Weight: 435 KB
• Volume: 67
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00291364

✦ Synopsis

During a heterozygote screening of nearly 3000 persons, triosephosphate isomerase (TPI) deficiencies in erythrocytes were discovered in 11 unrelated persons, showing a residual activity between 39 and 76% of normal activity. Extensive genealogic studies were performed to confirm that these persons with TPI deficiency were heterozygous carriers. The total heterozygote frequency of triosephosphate isomerase deficiencies was 3.7/1000. The persons with heterozygous deficiency could be divided into two categories. Subjects of category I had a mean residual activity of 49% of the expected normal activity and were represented by a frequency of 1.3/1000. Subjects of category II had a mean residual activity of 67% of the expected normal activity and were represented by a frequency of 2.4/1000. None of the heterozygous persons showed an electrophoretic variant. The immunologic specific activity was normal with one exception. Therefore, we assume that in many cases of our heterozygous TPI-deficiencies a TPI protein with a normal specific activity is synthesized to a diminished degree.