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Summary
REFSUM DISEASE
PHYTANIC ACID STORAGE DISEASE
266500
OMIM = Online Medalian Inheritance of Men
773
10pter-p11.2, 6q22-q24 ?
  • phytanic acid restricted diet
  • therapeutic apheresis
rare (>200 cases) autosomal recessive two genes, PHYH/PAHX (45%) and PEX7, have been identified to cause Refsum disease
symptoms
anosmia
ataxia
cardiomyopathy
cataract
hearing defect, deafness
ichthyosis
muscle weakness
neurological deterioration
night blindness
nystagmus
onset, adolescent
onset, adult
onset, child
peripheral neuropathy
retinitis pigmentosa
skeletal changes
laboratory finding
Phytanic acid40.002000.000.004.00-Ág/mlplasma
Phytanic acid oxidation 10.00 % of normalfibroblasts
Protein, total, spinal fluid 10.0030.00increasedspinal fluid
ECG abnormalities -
Pristanic acid decreasedplasma
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Moser ABet al.Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controlsAnn Neurol451100-1101999
Moser ABet al.Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controlsAnn Neurol451100-1101999
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Simonsen Het al.Neonatal screening in Denmark. status and future perspectivesUgeskr Laeger160405777-57821998
Wang Yet al.Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiencyProc Natl Acad Sci USA9652356-23601999
Cleghorn Get al.Age-related alterations in immunoreactive pancreatic lipase and cationic trypsinogen in young children with cystic fibrosisJ Pediatr1070377-3811985
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Moser ABet al.Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controlsAnn Neurol451100-1101999
Moser ABet al.Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controlsAnn Neurol451100-1101999