Ontology highlight
ABSTRACT:
SUBMITTER: Zoons E
PROVIDER: S-EPMC3509898 | biostudies-other | 2012
REPOSITORIES: biostudies-other
Zoons Evelien E de Koning Tom J TJ Abeling Nico G G M NG Tijssen Marina A J MA
JIMD reports 20111020
<h4>Case</h4>A 34-year-old woman was referred to our hospital with progressive movement disorders and neurodegeneration with brain iron accumulation and enlargement of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder.<h4>Background</h4>AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation of undigested oligosaccharides. The symptoms of AMD consist of facial and skeletal defo ...[more]