Refsum disease infantile form
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Introduction
Similar to Zellweger syndrome.
Pathology
- peroxisomes are deficient
- accumulation of phytanic acid, very long chain fatty acids, di- & trihydroxycholestanoic acid & pipecolic acid
Genetics
- autosomal recessive
- associated with defects in PEX1, PEX2, PEX5, PEX26 genes
- associated with defects in EHHADH expression
Clinical manifestations
- early onset
- mental retardation
- minor facial dysmorphism
- retinitis pigmentosa
- sensorineural hearing deficit
- hepatomegaly
- osteoporosis
- failure to thrive
- hypocholesterolemia
See[1]
Laboratory
More general terms
References
- ↑ 1.0 1.1 NINDS Infantile Refsum Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Refsum-Disease-Information-Page