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Advertisement Disease Biochemical Defect Inheritance Clinical Manifestations Lab. Diagnosis Treatment
1. Refsum disease There is deficiency of phytanic acid oxidase enzyme.Characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Autosomal recessive The disease is characterized by night blindness, loss of smell, deafness, muscle weakness and development of dysmorphic features in children. -Serum total cholesterol, HDL and LDL are moderately reduced. -Blood phytanic acid levels are elevated. -Phytanic oxidase activity estimation in skin fibroblast cultures is diagnostic. Eliminate all sources of chlorophyll from diet.Plasmapheresis is needed to remove Phytanic acid from blood.
2. Zellwegar syndrome Zellwegar syndrome is characterized by an individual’s inability to beta-oxidize very-long chain fatty acids in the Peroxisomes of the cell, due to a genetic disorder in one of the several genes involved with peroxisome biogenesis.

Zellwegar syndrome is the most severe of the PBDs(Peroxisome biogenesis Syndrome 

Autosomal Recessive Symptoms at birth may include a lack of muscle tone, an inability to move and glaucoma.

Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur. More than 90% growth failure.


The abnormally high levels of VLCFA ( Very long chain fatty acids ), are most diagnostic. There is no cure for Zellwegar syndrome, nor is there a standard course of treatment. 

Most treatments are symptomatic and supportive.









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