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Summary
PEROXISOME BIOGENESIS DISORDER 3B (PBD3B)
INFANTILE REFSUMS DISEASE
266510
OMIM = Online Medalian Inheritance of Men
772
17q12
  • low-phytanic acid diet
rare
autosomal recessive
mutation in the PEX12 gene
symptoms
anosmia
defect of deep tendon reflexes
dysmorphism
failure to thrive
flat facies (Potter facies)
flattened nose
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
mental retardation
neurological deterioration
onset, fetus
onset, neonatal
osteoporosis
peripheral neuropathy
retinitis pigmentosa
laboratory finding
Pipecolic acid75.00800.0013.9044.70+Ôé¼mol/g creatinineurinenewborn
Pipecolic acid5.9030.000.805.30-Ámol/lplasma
C26:01.703.100.100.60-Ág/mlplasma
Phytanic acid5.00180.000.003.10-Ág/mlplasma
MRI, brain, abnormalities -
Phytanic acid oxidation
Plasmalogens, biosynthesis
Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
Alkyl-dihydroxyacetone-phosphate synthase
Very-long-chain fatty acid oxidation
Peroxisomal Acyl-CoA oxidase
Peroxisomal 3-oxoacyl-CoA thiolase
Peroxisomal bifunctional enzyme
Very-long-chain fatty acids increasedserum
EEG abnormalities - ---
Literature
Mathur Aet al.Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden deathCirculation99101337-13431999
Di Meo I,Lamperti C1, Tiranti VMitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.EMBO Mol Med7101257-12662015
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
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
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