Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.

ABSTRACT:

Introduction

Recent studies have indicated that a proportion of patients with renal failure, left ventricular hypertrophy, or cryptogenic stroke have sequence variants in their aGal A gene (Fabry disease), which has resulted in an increase in diagnostic activities for this disorder. The diagnostic process for lysosomal storage disorders may result in findings of unknown clinical significance. Here we report such an unexpected outcome.

Case

A 32-year-old male presented at the emergency department because of a transient ischemic attack. Extensive investigations revealed no cause and an initial diagnosis of cryptogenic stroke was made. Subsequently, aGal A activity was measured in a bloodspot and was shown to be normal, but the activity of alpha-L-iduronidase (IDUA), used as re

SUBMITTER: Langereis EJ 

PROVIDER: S-EPMC3565649 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature