Neurological Disorders: Peroxisomal Disorders


Peroxisomal Disorders are a group of disorders with predominant neurological manifestations and they result from the dysfunction of organells in side the body cells called as peroxisomes.

Peroxisomes are important in the metabolism of very long chain fatty acids and several other nutritive materials. Their normal functioning is necessary for the normal growth & functioning of various organs and tissues like brain, cranial nerves, liver, bones etc. So a dysfunction of these organells can cause dysfunction of these organs & tissues.

They are genetic disorders and result due to genetic mutations.

Some important types of these disorders

• Zellweger syndrome
Refsum Disease
• Adrenoleukodystrophy
• Rizomelicchondrodysplasia punctata etc

The peroxisomal-disorders may be broadly classified as biogenesis disorders and enzyme & transport disorders.

Some of these diseases are rapidly progressive & fatal e.g. Zellweger, neonatal type adrenoleukodytrophy etc. Examples like adult onset Refsum disease etc are slowly progressive diseases.

The clinical manifestations of patients with these disorders vary and depending upon the particular disorder a patient may manifest with cognitive decline, regression of milestones, difficulty in acquiring new milestones, dementia like picture, muscle paralysis, visual and hearing deficits, bowel and bladder disturbances, neuropathies, spasticity etc. Some of these diseases are rapidly fatal and some of them although eventually fatal but may progress slowly.

Diagnosis & treatment

The tests employed for diagnosis of these condition depends on the type. If a genetic test is available and feasible then it is the definitive test. Testing for blood phytanic acid, very long chain fatty acids, assay of enzymes, MRI of the brain, EMG/NCS (electromyography & conduction study), CSF (cerebrospinal fluid) analysis are some other tests depending upon the type of disease.

There is no cure for any of these degenerative disorders so symptomatic and supportive care is given.

A pediatric and/or adult neurologist is frequently involved in the care of patients with peroxisomal-disorders.

Peroxisomal Disorders to Neurology Articles