Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.
We present a relatively mild case of peroxisomal D-bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders.
Soorani-Lunsing
R J
RJ
Department of Child Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. r.j.soorani@neuro.umcg.nl
van Spronsen
F J
FJ
Stolte-Dijkstra
I
I
Wanders
R J
RJ
Ferdinandusse
S
S
Waterham
H R
HR
Poll-The
B T
BT
Rake
J P
JP
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D001774:Blood Chemical Analysis / Q000379:methods*; D001921:Brain / Q000473:pathology; D003241:Consanguinity; D019066:Facies; D005227:Fatty Acids / Q000032:analysis* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009154:Mutation; D018901:Peroxisomal Disorders / Q000175:diagnosis*; D064029:Peroxisomal Multifunctional Protein-2; D020675:Peroxisomes / Q000378:metabolism*
D005227:Fatty Acids; D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human