TY - JOUR
T1 - Biochemical abnormalities in rhizomelic chondrodysplasia punctata
AU - Hoefler, Gerald
AU - Hoefler, Sigrid
AU - Watkins, Paul A.
AU - Chen, Winston W.
AU - Moser, Ann
AU - Baldwin, Virginia
AU - McGillivary, B.
AU - Charrow, Joel
AU - Friedman, J. M.
AU - Rutledge, Lane
AU - Hashimoto, Takashi
AU - Moser, Hugo W.
N1 - Funding Information:
Supported in part by Grant HD 10981 from the U.S. Public Health Service. Dr. Gerald Hoefler supported by Fonds zur Foerderung der Wissenschaftlichen Forschung, Project No. J0145M. Dr. Sigrid Hoefler supported by a Fulbright Scholarship. Submitted for publication July 30, 1987; accepted Nov. 2, 1987. Reprint requests: Hugo W. Moser, MD, The Kennedy Institute, 707 N. Broadway, Baltimore, MD 21205.
PY - 1988/5
Y1 - 1988/5
N2 - Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic chondrodysplasia punctata (RCDP) and compared with findings in patients with Zellweger syndrome and neonatal adrenoleukodystrophy (ALD). Patients with RCDP had three characteristic biochemical abnormalities: (1) profound defect in plasmalogen (ether lipid) synthesis, which is significantly greater than the analogous defect in Zellweger syndrome or neonatal ALD; (2) reduction of phytanic acid oxidation activity to 1% to 5% of control, similar to that observed in Refsum disease, Zellweger syndrome, and neonatal ALD; (3) presence of the unprocessed form of peroxisomal 3-oxoacyl-coenzyme A thiolase in the postmortem liver of two patients. Other peroxisomal functions were normal, including levels of very long chain fatty acids, pipecolic acid, and bile acid intermediates, and immunoblot studies of peroxisomal acyl-CoA oxidase and bifunctional enzyme in postmortem liver. Unlike what is observed in Zellweger syndrome and neonatal ALD, catalase activity in cultured skin fibroblasts was sedimentable, indicating that peroxisome structure is not grossly deficient in RCDP. The biochemical abnormalties in RCDP were consistent and set it apart from all the other known peroxisomal disorders.
AB - Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic chondrodysplasia punctata (RCDP) and compared with findings in patients with Zellweger syndrome and neonatal adrenoleukodystrophy (ALD). Patients with RCDP had three characteristic biochemical abnormalities: (1) profound defect in plasmalogen (ether lipid) synthesis, which is significantly greater than the analogous defect in Zellweger syndrome or neonatal ALD; (2) reduction of phytanic acid oxidation activity to 1% to 5% of control, similar to that observed in Refsum disease, Zellweger syndrome, and neonatal ALD; (3) presence of the unprocessed form of peroxisomal 3-oxoacyl-coenzyme A thiolase in the postmortem liver of two patients. Other peroxisomal functions were normal, including levels of very long chain fatty acids, pipecolic acid, and bile acid intermediates, and immunoblot studies of peroxisomal acyl-CoA oxidase and bifunctional enzyme in postmortem liver. Unlike what is observed in Zellweger syndrome and neonatal ALD, catalase activity in cultured skin fibroblasts was sedimentable, indicating that peroxisome structure is not grossly deficient in RCDP. The biochemical abnormalties in RCDP were consistent and set it apart from all the other known peroxisomal disorders.
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U2 - 10.1016/S0022-3476(88)80689-9
DO - 10.1016/S0022-3476(88)80689-9
M3 - Article
C2 - 2452243
AN - SCOPUS:0023897619
VL - 112
SP - 726
EP - 733
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 5
ER -