Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Infantile Refsum's disease is a rare genetic disorder.
• It presents with a complex set of symptoms affecting multiple organ systems.

Observation:

• Three male patients were diagnosed with infantile Refsum's disease.
• Clinical manifestations included facial dysmorphia, retinitis pigmentosa, hearing loss, hepatomegaly, osteopenia, and developmental delays.

Findings:

• Elevated plasma phytanic acid and accumulation of very long chain fatty acids were observed.
• Deficient phytanic acid oxidase and acylCoA: dihydroxyacetone phosphate acyl transferase activities were identified.
• Impaired de novo plasmalogen biosynthesis and abnormal bile acid metabolites were noted.

Implications:

• The biochemical profile suggests multiple peroxisomal dysfunction.
• These findings align with known abnormalities in Zellweger syndrome.
• Further research into peroxisomal pathways is warranted for therapeutic strategies.