RESUMEN
This article summarizes data and issues covered in the workshop on Glycine Encephalopathy using headings that cover important topics in our present knowledge of this disease.
Asunto(s)
Coma Hiperglucémico Hiperosmolar no Cetósico , Animales , Modelos Animales de Enfermedad , Humanos , Coma Hiperglucémico Hiperosmolar no Cetósico/diagnóstico , Coma Hiperglucémico Hiperosmolar no Cetósico/genética , Coma Hiperglucémico Hiperosmolar no Cetósico/fisiopatología , RatonesRESUMEN
One of eight patients with nonketotic hyperglycinemia resulted by the lesion in glycine decarboxylase showed the deletion of 0.6-kb SacI and 1.5-kb PstI fragments identified by the cDNA for this protein. A genomic clone, lambda HGDG10, encodes a 5' region of this cDNA in an organized structure and can produce these two fragments. The other clone, lambda HGDG8, carries a processed gene. Southern analysis using a limited segment of this cDNA demonstrated that the 1.7-kb and 1.5-kb PstI fragments predicted from its recognition sites in both genomic clones occur actually in the human genome, indicating that at least two copies of glycine decarboxylase cDNA exist in the haploid genome, and the patient has the glycine decarboxylase gene deleted at a 5' region.