Related Experiment Videos
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction
Insights
Infantile Refsum's disease involves multiple peroxisomal dysfunctions, impacting growth and development. Biochemical findings indicate impaired fatty acid metabolism and plasmalogen biosynthesis in affected male patients.
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.
Abstract:
Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic acid oxidase activity in fibroblasts were found with an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma. Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impaired de novo plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients.