Absence of red cell glutamic-pyruvate transaminase: discovery of a "silent" allele homozygote.
An individual with complete absence of red blood cell glutamic-pyruvate transaminase (GPT) activity has been discovered in a South African family of Lebanese origin. The subject, who also shows a low level of serum GPT, appears to be perfectly healthy. His children, all obligatory heterozygotes for the GPT0 allele, have lower than average levels of the red cell enzyme. An apparent instance of anomalous segregation of red cell GPT resulting from the inheritance of the GPT0 allele was recorded in one of the proband's grandchildren.
D000410:Alanine Transaminase / Q000172:deficiency* / Q000235:genetics; D000483:Alleles; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012641:Selection, Genetic
D000410:Alanine Transaminase