Catalog
Refsum disease
No MMS code
Link to WHO Definition
Refsum disease – http://id.who.int/icd/entity/1055252392
Refsum disease, a very rare disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leukodystrophic diseases. The first symptom is hemeralopia (loss of vision in the dark), followed by episodes of chronic distal motor polyneuropathy. Other associated signs include perceptive deafness, anosmia, cerebellous ataxia and sometimes, severe intellectual deficiency.
Parents
- 5C57.1 Disorders of peroxisomal alpha-, beta- or omega-oxidation
- 8A44.3 Certain specified leukodystrophies
- Other hereditary neuropathy
- Autosomal ichthyosis syndromes with neurological manifestations
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature
- Retinal dystrophies with systemic associations