Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.
We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.
Poulos
A
A
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, South Australia.
Christodoulou
J
J
Chow
C W
CW
Goldblatt
J
J
Paton
B C
BC
Orii
T
T
Suzuki
Y
Y
Shimozawa
N
N
D002374:Catalase / Q000737:chemistry*; D002459:Cell Fusion; D003241:Consanguinity; D005347:Fibroblasts / Q000737:chemistry; D005816:Genetic Complementation Test; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008830:Microbodies / Q000737:chemistry* / Q000235:genetics*; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D010949:Plasma; D015211:Zellweger Syndrome / Q000175:diagnosis / Q000235:genetics
D002374:Catalase