Related Experiment Video
Updated: Oct 3, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
The clinical aspects of adult hexosaminidase deficiencies
A Federico1, S Palmeri, A Malandrini
1Istituto di Scienze Neurologiche, Facoltà di Medicina, Università di Siena, Italia.
Abstract:
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.
More Related Videos
Related Concept Videos
Lysosomal Hydrolases
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Nephrotic Syndrome I : Introduction
Chronic Kidney Disease II: Clinical Manifestations
Type I Diabetes III: Clinical Manifestations
Cirrhosis I: Introduction

