Refsum disease

Term ID

DOID:10582

Synonyms

• adult Refsum disease
• classic Refsum disease
• Heredopathia atactica polyneuritiformis
• HMSN type IV
• HSMN IV
• phytanic acid oxidase deficiency
• Refsum's disease

Definition

A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (4)

References

• GARD:5691
• ICD10CM:G60.1
• ICD9CM:356.3
• MESH:D012035
• NCI:C85043
• OMIM:266500
• ORDO:773
• SNOMEDCT_US_2023_03_01:25362006
• UMLS_CUI:C0034960

Ontology

Human Disease   ( DOID:10582 )