[Anderson-Fabry disease. Current status. Apropos of a case]. / Enfermedad de Anderson-Fabry. Situación actual. A propósito de un caso.

ABSTRACT

After submitting a typical case of Anderson-Fabry disease in a 38 years old male, we discuss the eminent aspects of this metabolic disorder and, above all, the clinical, biochemical and ultrastructural problems of diagnosis in the heterozygotic relatives.