Related Experiment Videos
Adult acid maltase deficiency
R J Barohn1, A L McVey, S DiMauro
1Department of Medicine (Neurology), University of Texas Health Science Center, San Antonio 78210.
Muscle & Nerve
|June 1, 1993
Summary
This study highlights acid maltase deficiency (AMD) presenting as a scapuloperoneal neuromuscular syndrome in adults. It underscores the varied clinical manifestations of AMD within families.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Acid maltase deficiency (AMD), also known as Pompe disease, is a rare genetic disorder.
- It is caused by a deficiency in the enzyme acid alpha-glucosidase, leading to glycogen accumulation in lysosomes.
- AMD typically presents in infancy or childhood, but adult-onset forms exist with variable clinical features.