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Refsum disease infantile form
Similar to Zellweger syndrome.
Pathology:
1) peroxisomes are deficient
2) 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:
1) early onset
2) mental retardation
3) minor facial dysmorphism
4) retinitis pigmentosa
5) sensorineural hearing deficit
6) hepatomegaly
7) osteoporosis
8) failure to thrive
9) hypocholesterolemia
See [1]
Laboratory:
- PEX1 gene mutation
Related
dihydroxyacetone phosphate acyltransferase; DAP-AT; DHAP-AT; acyl-CoA:dihydroxyacetonephosphateacyltransferase; glycerone-phosphate O-acyltransferase (GNPAT, DAPAT, DHAPAT)
peroxisome
phytanic acid
phytanoyl-CoA dioxygenase, peroxisomal; phytanic acid oxidase; phytanoyl-CoA alpha-hydroxylase; phyH (PHYH, PAHX)
pipecolic acid; homoproline; pipecolinic acid
plasmalogen
General
Refsum disease; phytanic acid oxidase deficiency; phytanic acid storage disease
Properties
ACCUMULATION: phytanic acid
pipecolic acid
DEFICIENCY: phytanoyl-CoA dioxygenase, peroxisomal
dihydroxyacetone phosphate acyltransferase
plasmalogen
peroxisome
Database Correlations
OMIM 266510
References
- NINDS Infantile Refsum Disease Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Refsum-Disease-Information-Page