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Related Experiment Videos

[Autonomic dysfunction in metabolic diseases].

Y Sakakihara1

  • 1Department of Pediatrics, Faculty of Medicine, University of Tokyo.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|April 1, 1992
PubMed
Summary
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Neuropathological analysis in spinal muscular atrophy type II.

Acta neuropathologica·2003

Porphyrias and Fabry disease impact the autonomic nervous system, causing symptoms like pain and high blood pressure. Pathological changes in nerves are observed in both metabolic disorders.

Area of Science:

  • Metabolic disorders
  • Neuroscience
  • Autonomic nervous system

Context:

  • Porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria) and Fabry disease are metabolic disorders.
  • Autonomic nervous system dysfunction is a key feature in these conditions.
  • Clinical manifestations include abdominal pain, vomiting, hypertension, tachycardia, limb pain, hypohidrosis, and angiokeratomas.

Purpose:

  • To review the pathological changes in the central and peripheral autonomic nervous system in porphyrias and Fabry disease.
  • To correlate clinical autonomic symptoms with documented neuropathological findings.

Summary:

  • Porphyrias exhibit loss of myelinated fibers, axonal degeneration, and segmental demyelination in peripheral autonomic nerves, along with brain stem chromatolysis.

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  • Fabry disease is characterized by the accumulation of alpha-galactosidase substrates (ceramide di- and trihexoside) in autonomic nerves.
  • Both conditions demonstrate significant neuropathology within the autonomic nervous system.

    • Impact:

    • Understanding these neuropathological mechanisms can guide the development of targeted therapies.
    • Highlights the critical role of the autonomic nervous system in metabolic disease presentation.
    • Emphasizes the need for early diagnosis and management of autonomic dysfunction in these patients.