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Summary
PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY
DBP DEFICIENCY
261515
OMIM = Online Medalian Inheritance of Men
300
5q23.1
very rare
autosomal recessive
the reported biochemical aberrations can no longer be explained by a deficiency of this thiolase ... the true defect in this patient is at the level of d-bifunctional protein (DBP) [Ferdinandusse S et al. 2002]
symptoms
dysmorphism
early death
neurological deterioration
renal cysts
seizures
laboratory finding
Pipecolic acid0.903.100.805.30-Ámol/lplasma
Very-long-chain fatty acid oxidation
Peroxisomal 3-oxoacyl-CoA thiolase
Very-long-chain fatty acids increasedserum
Literature
Gerrits MIThijssen JH, van Rijn HJDetermination of pyrodinoline and deoxypyrodinoline in urine, with special attention to retaining their stabilityClin Chem414571-5741995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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