Biochemical abnormalities in rhizomelic chondrodysplasia punctata
Open accessAbstract
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 abnormalities in RCDP were consistent and set it apart from all the other known peroxisomal disorders.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In all RCDP subtypes, pathology has been more or less exclusively assigned to lack of plasmalogens.
“The pathology in all subtypes of RCDP has been more or less exclusively assigned to the lack of plasmalogens”
From Peroxisomes in brain development and function (2016) · cites this paper as [186]
Other ether phospholipids, such as alkylphospholipids and platelet-activating factor, are depleted in all types of RCDP.
“also other ether phospholipids, like alkylphospholipids (lacking the vinyl ether bond characteristic for plasmalogens) or platelet-activating factor, are depleted in all types of RCDP”
From Peroxisomes in brain development and function (2016) · cites this paper as [186]
Cites
PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT
Lowry, O. H., Rosebrough, N., Farr, A. L., & Randall, R. (1951) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)52451-6 · Cited by 315,771 · see citing works
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
LAEMMLI, U. K. (1970) · Nature · doi:10.1038/227680a0 · Cited by 249,961 · see citing works
A SIMPLE METHOD FOR THE ISOLATION AND PURIFICATION OF TOTAL LIPIDES FROM ANIMAL TISSUES
Folch, J., Lees, M., & Stanley, G. H. S. (1957) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64849-5 · Cited by 65,189 · see citing works
THE PREPARATION OF 131I-LABELLED HUMAN GROWTH HORMONE OF HIGH SPECIFIC RADIOACTIVITY
Greenwood, F., Hunter, W., & GLOVER, J. S. (1963) · Biochemical Journal · doi:10.1042/bj0890114 · Cited by 10,178 · see citing works
Maternal and fetal sequelae of anticoagulation during pregnancy
Hall, J. G., Pauli, R. M., & Wilson, K. M. (1980) · The American Journal of Medicine · doi:10.1016/0002-9343(80)90181-3 · Cited by 1,003 · see citing works
LYSOSOMES OF THE ARTERIAL WALL
Peters, T. J., Müller, M., & de Duve, A. C. (1972) · The Journal of Experimental Medicine · doi:10.1084/jem.136.5.1117 · Cited by 407 · see citing works
Moser, H. (1981) · doi:10.1212/wnl.31.10.1241 · Cited by 396 · see citing works
Self-citationEther lipids : biochemical and biomedical aspects
Mangold, H. K., & Paltauf, F. (1983) · Cited by 287 · see citing works
Heterogeneity of Chondrodysplasia punctata
Spranger, J. W., Opitz, J. M., & Bidder, U. (1971) · Human Genetics · doi:10.1007/bf00274739 · Cited by 237 · see citing works
Singh, I., Moser, A. E., Moser, H. W., & Kishimoto, Y. (1984) · Pediatric Research · doi:10.1203/00006450-198403000-00016 · Cited by 234 · see citing works
Self-citationKelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230404 · Cited by 219 · see citing works
Self-citationX-Linked dominant chondrodysplasia punctata
Happle, R. (1979) · Human Genetics · doi:10.1007/bf00289453 · Cited by 218 · see citing works
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
Moser, H. W., Moser, A. B., Kawamura, N., Murphy, J. V., Suzuki, K., Schaumburg, H. H., & Kishimoto, Y. (1980) · Annals of Neurology · doi:10.1002/ana.410070607 · Cited by 209 · see citing works
Self-citationHuman peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
Schram, A. W., Goldfischer, S. L., van Roermund, C. W. T., Brouwer-Kelder, E. M., Collins, J. C., Hashimoto, T., Heymans, H. S. A., van den BOSCH, H., Schutgens, R. B. H., & Tager, J. M. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.8.2494 · Cited by 200 · see citing works
Self-citationSchutgens, R. B. H., Romeyn, G. J., Wanders, R. J. A., van den BOSCH, H., Schrakamp, G., & Heymans, H. S. A. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(84)91430-x · Cited by 192 · see citing works
Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome
Curry, C. J., Magenis, R. E., Brown, M., et al. (1984) · New England Journal of Medicine · doi:10.1056/nejm198410183111603 · Cited by 191 · see citing works
Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities
Goldfischer, S. L., Collins, J. C., Rapin, I., Neumann, P. E., Neglia, W., Spiro, A. J., Ishii, T., Roels, F., Vamecq, J., & HOOF, F. V. (1986) · The Journal of Pediatrics · doi:10.1016/s0022-3476(86)80764-8 · Cited by 190 · see citing works
Deficiency of Enzymes Catalyzing the Biosynthesis of Glycerol-Ether Lipids in Zellweger Syndrome
Datta, N. S., Wilson, G. N., & Hajra, A. K. (1984) · New England Journal of Medicine · doi:10.1056/nejm198410253111704 · Cited by 188 · see citing works
The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects
Kelley, R. I. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320160409 · Cited by 180 · see citing works
Danpure, C., Jennings, P. R., & Watts, R. W. E. (1987) · The Lancet · doi:10.1016/s0140-6736(87)92023-x · Cited by 172 · see citing works
Rhizomelic Chondrodysplasia Punctata: Another Peroxisomal Disorder
Ziv, Y., Rubin, M., Lombrozo, R., Rapoport, D., & Dintsman, M. (1985) · New England Journal of Medicine · doi:10.1056/nejm198507183130322 · Cited by 161 · see citing works
Peroxisomal Defects in Neonatal-Onset and X-Linked Adrenoleukodystrophies
Goldfischer, S. L., Collins, J. C., Rapin, I., Coltoff-Schiller, B., Chang, C., Nigro, M. A., Black, V. H., Javitt, N. B., Moser, H. W., & Lazarow, P. B. (1985) · Science · doi:10.1126/science.3964959 · Cited by 151 · see citing works
Self-citationPeroxisomal β-oxidation enzyme proteins in the Zellweger syndrome
Tager, J. M., Beek, W. A. T. H. V. D., Wanders, R. J. A., Hashimoto, T., Heymans, H. S. A., van den BOSCH, H., Schutgens, R. B. H., & Schram, A. W. (1985) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(85)90322-5 · Cited by 128 · see citing works
Self-citationBiosynthesis and intracellular transport of enzymes of peroxisomal beta-oxidation.
Miura, S., Mori, M., Takiguchi, M., et al. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(20)82155-3 · Cited by 124 · see citing works
Roscher, A. A., Molzer, B., Bernheimer, H., et al. (1985) · Pediatric Research · doi:10.1203/00006450-198509000-00013 · Cited by 85 · see citing works
Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata
Heymans, H. S. A., Oorthuys, J. W. E., Gf, N., Wanders, R. J. A., Dingemans, K. P., & Schutgens, R. B. H. (1986) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799743 · Cited by 62 · see citing works
Moser, H. W. (1986) · The Journal of Pediatrics · doi:10.1016/s0022-3476(86)80774-0 · Cited by 58 · see citing works
Self-citationAssay of the major bile acids in serum by isotope dilution-mass spectrometry
Björkhem, I., & Falk, O. (1983) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.1080/00365518309168239 · Cited by 57 · see citing works
Prenatal Diagnosis of Zellweger Cerebrohepatorenal Syndrome
Hajra, A. K., Datta, N. S., Jackson, L. G., et al. (1985) · New England Journal of Medicine · doi:10.1056/nejm198502143120717 · Cited by 55 · see citing works
Peroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata
Heymans, H. S. A., Oorthuys, J. W. E., Gf, N., Wanders, R. J. A., Dingemans, K. P., & Schutgens, R. B. H. (1986) · Springer eBooks · doi:10.1007/978-94-009-4131-1_62 · Cited by 54 · see citing works
Murad, S., & Kishimoto, Y. (1975) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)41129-0 · Cited by 53 · see citing works
New Approaches in Peroxisomal Disorders
Moser, H. W. (1987) · Developmental Neuroscience · doi:10.1159/000111604 · Cited by 49 · see citing works
Self-citationLazarow, P. B., Fujiki, Y., Small, G. M., et al. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.23.9193 · Cited by 49 · see citing works
Peroxisomal Enzyme Deficiency in the Conradi–Hunerman Form of Chondrodysplasia Punctata
Holmes, R., Wilson, G. N., & Hajra, A. K. (1987) · New England Journal of Medicine · doi:10.1056/nejm198706183162517 · Cited by 41 · see citing works
Chen, W. W., Watkins, P. A., Osumi, T., Hashimoto, T., & Moser, H. W. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.5.1425 · Cited by 35 · see citing works
Self-citationWanders, R. J. A., Saelman, D. E. M., Heymans, H. S. A., et al. (1986) · New England Journal of Medicine · doi:10.1056/nejm198603203141216 · Cited by 34 · see citing works
Webber, K. O., Datta, N. S., & Hajra, A. K. (1987) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(87)90144-5 · Cited by 23 · see citing works
Assay of the major bile acids in serum by isotope dilution-mass spectrometry
Björkhem, I., & Falk, O. (1983) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365518309168239 · Cited by 21 · see citing works
Determination of pipecolic acid in urine and plasma by isotope dilution mass fragmentography
Berg, G. A. V. D., Breukelman, H., Elzinga, H., et al. (1986) · Clinica Chimica Acta · doi:10.1016/0009-8981(86)90056-2 · Cited by 14 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Peroxisome biogenesis disorders
Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.09.010 · Cited by 522 · see citing works
Self-citationAubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006283222607 · Cited by 366 · see citing works
Peroxisomes in brain development and function
Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194 · see citing works
Identification of PEX7 as the second gene involved in Refsum disease
van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., & Ronald Wanders, J. A. (2003) · The American Journal of Human Genetics · doi:10.1086/346093 · Cited by 171 · see citing works
Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/503921 · Cited by 145 · see citing works
Buchert, R., Tawamie, H., Smith, C., Uebe, S., Innes, A. M., Al Hallak, B., Ekici, A. B., Sticht, H., Schwarze, B., Lamont, R. E., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.003 · Cited by 132 · see citing works
Lipid metabolism in peroxisomes in relation to human disease
Wanders, R. J. A., & Tager, J. M. (1998) · Molecular Aspects of Medicine · doi:10.1016/s0098-2997(98)00003-x · Cited by 122 · see citing works
Brites, P. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg236 · Cited by 116 · see citing works
Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics · doi:10.1086/338998 · Cited by 107 · see citing works
Takemoto, Y., Suzuki, Y., Horibe, R., Shimozawa, N., Wanders, R. J. A., & Kondo, N. (2003) · Brain and Development · doi:10.1016/s0387-7604(03)00033-0 · Cited by 101 · see citing works
Barøy, T., Koster, J., Strømme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv305 · Cited by 81 · see citing works
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder
Hiebler, S., Masuda, T., Hacia, J. G., Moser, A. B., Faust, P. L., Liu, A., Chowdhury, N., Huang, N., Lauer, A., Bennett, J., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.01.008 · Cited by 60 · see citing works
Self-citationA new type of chondrodysplasia punctata associated with peroxisomal dysfunction
Poll‐The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., & Saudubray, J. M. (1991) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01811703 · Cited by 32 · see citing works
Chondrodysplasia punctata with a mild clinical course
Nuoffer, J. M., Pfammatter, J. P., Spahr, A., Toplak, H., Wanders, R. J. A., Schutgens, R. B. H., & Wiesmann, U. N. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00735395 · Cited by 20 · see citing works
- Authors
- Hoefler, G., Hoefler, S., Watkins, P. A., Chen, W. W., Moser, A., Baldwin, V., McGillivary, B., Charrow, J., Friedman, J. M., Rutledge, L., Hashimoto, T., & Moser, H. W.
- Affiliations
- Northwestern University (US)
- Corresponding author
- Moser, Hugo W.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 1988-05
- Volume
- 112
- Issue
- 5
- Pages
- 726-733
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2087357371
- Cited by
- 133
- References
- 39
- Citations by year
- 2025: 2 · 2020: 3 · 2019: 1 · 2015: 4 · 2014: 3 · 2013: 1 · 2012: 1
- FWCI
- 9.49
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Pediatrics (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-10981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- rhizomelic chondrodysplasia punctata, peroxisomal disorders, plasmalogens, Refsum disease, Zellweger syndrome, neonatal adrenoleukodystrophy, 3-oxoacyl-CoA thiolase, catalase activity, very long chain fatty acids, pipecolic acid, bile acid intermediates
- MeSH terms
- Acetyl-CoA C-Acyltransferase, Adrenoleukodystrophy, Chondrodysplasia Punctata, Female, Fibroblasts, Humans, Infant, Infant, Newborn, Liver, Male, Microbodies, Phytanic Acid, Plasmalogens, Refsum Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
