Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Tuschl, K; Gal, A; Paschke, E; Kircher, S; Bodamer, OA.
Mucopolysaccharidosis type II in females: case report and review of literature.
Pediatr Neurol. 2005; 32(4):270-272
Doi: 10.1016/j.pediatrneurol.2004.10.009
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
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- Abstract:
- Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females are rare. The disease phenotype in this case is due to complete unilateral inactivation of the nonmutant paternal X chromosome of the patient. The case presented here underscores the fact that a diagnosis of mucopolysaccharidosis type II should be suspected in any female who presents with the relevant clinical symptoms.
- Find related publications in this database (using NLM MeSH Indexing)
- Child, Preschool -
- Chromosomes, Human, X -
- Female -
- Glycoproteins - genetics
- Humans - genetics
- Mucopolysaccharidosis II - diagnosis
- Phenotype - diagnosis
- Sex Factors - diagnosis