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Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed

S Al Sawaf1, E Mayatepek, B Hoffmann

  • 1Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, Moorenstr. 5, D-40225, Düsseldorf 20, Germany.

Journal of Inherited Metabolic Disease
|July 12, 2008
PubMed

Insights

Hunter disease (MPS II) causes severe neurological symptoms due to enzyme deficiency. This review explores these manifestations and enzyme replacement therapy

Area of Science:

  • Genetics and rare diseases
  • Biochemistry and metabolic disorders
  • Neurology and clinical manifestations

Background:

  • Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder.
  • It results from iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
  • Neurological complications significantly impact patient morbidity and mortality.

Purpose of the Study:

  • To detail the neurological manifestations in Hunter disease (MPS II).
  • To elucidate the pathophysiology underlying these neurological symptoms.
  • To evaluate the potential of enzyme replacement therapy for neurological improvement in MPS II.

Main Methods:

  • Literature review of characteristic neurological symptoms in MPS II.
  • Analysis of the pathophysiology of Hunter disease.
  • Appraisal of enzyme replacement therapy efficacy for neurological aspects.

Main Results:

  • Hunter disease presents with diverse neurological issues, including hydrocephalus and cognitive impairment.
  • Pathophysiology involves GAG accumulation affecting neural structures.
  • Enzyme replacement therapy's impact on neurological symptoms requires further investigation.

Conclusions:

  • Neurological manifestations are a critical and severe aspect of Hunter disease.
  • Understanding MPS II pathophysiology is key to developing effective treatments.
  • Further research is needed to confirm enzyme replacement therapy benefits for neurological outcomes in MPS II.

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