RESUMO

We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.

Assuntos

Catalase/química , Microcorpos/química , Microcorpos/genética , Transtornos Peroxissômicos/diagnóstico , Transtornos Peroxissômicos/genética , Fusão Celular , Consanguinidade , Fibroblastos/química , Teste de Complementação Genética , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Plasma , Síndrome de Zellweger/diagnóstico , Síndrome de Zellweger/genética