Refsum's disease



Refsum's disease
Classification & external resources
Phytanic acid
ICD-10 G60.1
ICD-9 356.3
OMIM 266500
DiseasesDB 11213
eMedicine derm/705 
MeSH D012035

Refsum's disease (Refsum-Thiébaut disease, Refsum-Thiébaut-Klenk-Kahlke disease), named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991),[1][2] is neurological disease that results in the malformation of myelin sheaths around nerve cells. It is a peroxisomal disorder.

Causes

Refsum's disease is caused by faulty enzymes during the alpha-oxidation of unsaturated fatty acid derivatives in the plasma and tissues.

This in turn can be due to deficiencies of phytanoyl-CoA hydroxylase (chromosome 10) or peroxin-7 (chromosome 6).

Presentation

Patients with Refsum's Disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation/remission occur.

Treatment

The most effective therapy in the classic Refsum disease is dietary treatment with a phytanic acid-restricted diet, such as exclusively avoiding consumption of beef, lamb, fatty fish such as tuna, cod, and haddock [3]. Recent research has shown that CYP4 isoform enzymes could eliminate the phytanic acid storage in vivo [4] and patients could try alternative natural remedies with either eatable marine invertebrates or with clofibrate supplement of which the component is usually rich in the excretion of high plant [5], [6], [7]. Currently, there is no clinical data to approve using this xenonbiotic drug for the treatment, perhaps due to its serious adverse effect [8]and the major medical treatment of the disease only relies on the plasmapheresis.

Reaction

Phytol (from chlorophyll in plant foods) ---> propionyl CoA

See also

  • The Myelin Project

References

  1. ^ S. Refsum: "Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse." Nordisk Medicin,1945, 28: 2682-2686 (in norwegian).
  2. ^ S. Refsum: "Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. A contribution to the clinical study of hereditary diseases of the nervous system". Acta psych. neur., 1946. Suppl.38: 1-303.
  3. ^ National Institutes of Health. Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis . Retrieved on 8 July, 2007.
  4. ^ Xu, Fengyun et al.. CYP4 Isoform Specificity in the {omega}-Hydroxylation of Phytanic Acid, a Potential Route to Elimination of the Causative Agent of Refsum's Disease . Retrieved on 11 July, 2007.
  5. ^ Snyder, Mark J.. Cytochrome P450 enzymes belonging to the CYP4 family from marine invertebrates . Retrieved on 11 July, 2007.
  6. ^ Rewitz, Kim F.. Marine invertebrate cytochrome P450: Emerging insights from vertebrate and insect analogies . Retrieved on 11 July, 2007.
  7. ^ Raucy, Judy L.. Regulation of CYP2E1 by Ethanol and Palmitic Acid and CYP4A11 by Clofibrate in Primary Cultures of Human Hepatocytes . Retrieved on 11 July, 2007.
  8. ^ Atromid-S: Indication & Dosage . Retrieved on 11 July, 2007.
v • d • e
Nervous system pathology, primarily PNS (G50-G99, 350-359)
Nerve, nerve root
and plexus disorders		cranial nerve: V (Trigeminal neuralgia) - VII (Facial nerve paralysis, Bell's palsy, Melkersson-Rosenthal syndrome, Central seven) - XI (Accessory nerve disorder)

nerve root and plexus: Brachial plexus lesion - Thoracic outlet syndrome - Phantom limb

mononeuropathy: Carpal tunnel syndrome - Ulnar nerve entrapment - Radial neuropathy - Causalgia - Meralgia paraesthetica - Tarsal tunnel syndrome - Morton's neuroma - Mononeuritis multiplex
Polyneuropathies
and other disorders of the PNS		Hereditary and idiopathic (Charcot-Marie-Tooth disease, Dejerine Sottas syndrome, Refsum's disease, Morvan's syndrome) - Guillain-Barré syndrome - Alcoholic polyneuropathy - Neuropathy
Diseases of myoneural junction
and muscle		Myasthenia gravis - Primary disorders of muscles (Muscular dystrophy, Myotonic dystrophy, Hyperkalemic) - Lambert-Eaton myasthenic syndrome
AutonomicFamilial dysautonomia - Horner's syndrome - Multiple system atrophy (Shy-Drager syndrome, Olivopontocerebellar atrophy)
v • d • e
Peroxisomal disorders
Zellweger syndrome
 
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