<unk>  is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues. This may be due to deficiencies of phytanoyl-CoA hydroxylase or peroxin-7 activity. In general,<unk>  is caused by PHYH mutations. PEX7 gene mutations can interrupt the peroxisomal transport of proteins as this gene codes for the peroxin 7 protein receptor. These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of many parts of the body.<unk>  is inherited in an autosomal recessive pattern, meaning that it requires both copies of the mutation to inherit the<unk> .
Refsum disease
Shell nail syndrome
Arthritis mutilans
Fuchs' dystrophy
Dentinogenesis imperfecta
Scleroderma
Chyloderma
Xeroderma