heredopathia atactica polyneuritiformis
[autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid. ( CSP )]
UMLS (CSP) C0034960- Disease or Syndrome
Relation/PAR: inborn lipid storage disorder
Hereditary Motor and Sensory Neuropathies
Polyneuropathies
Hereditary Motor and Sensory Neuropathies
Polyneuropathies
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