Chondrodysplasia punctata with a mild clinical course
Open accessAbstract
We report a 7-year-old patient with chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems. De novo plasmalogen synthesis in fibroblasts was greatly reduced and DHAP-AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA-DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5-fold. The patient represents a mild clinical course of chondrodysplasia punctata, resembling Conradi-Hünermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic chondrodysplasia punctata except for a high residual activity of DHAP-AT.
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RCDP severity varies remarkably and depends strongly on residual activity of the affected enzyme and thus the level of plasmalogens.
“The severity of the disease varies remarkably, depending strongly on the residual activity of the affected enzyme and, thus, the level of plasmalogens [188–191].”
From Peroxisomes in brain development and function (2016) · cites this paper as [189]
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Peroxisomes in brain development and function
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- Authors
- Nuoffer, J. M., Pfammatter, J. P., Spahr, A., Toplak, H., Wanders, R. J. A., Schutgens, R. B. H., & Wiesmann, U. N.
- Affiliations
- University Hospital of Bern (CH)
- Hôpital de Sion (CH)
- Department of Pediatrics, Division of Pediatric Clinical Chemistry University Hospital Amsterdam The Netherlands
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1993-06-08
- Volume
- 17
- Issue
- 1
- Pages
- 60-66
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2010597258
- Cited by
- 20
- References
- 23
- Citations by year
- 2020: 1 · 2015: 2 · 2014: 2 · 2012: 2
- FWCI
- 0.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Bern Open Repository and Information System (University of Bern) (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion)
- Open Access CRIS of the University of Bern
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- chondrodysplasia punctata, peroxisomal dysfunction, plasmalogen synthesis, phytanic acid, membrane fluidity, Conradi-Hünermann syndrome, psychomotor retardation, joint contractures, cataract, fibroblasts, erythrocyte ghosts, lymphocytes
- MeSH terms
- Acetyl-CoA C-Acetyltransferase, Acyltransferases, Child, Chondrodysplasia Punctata, Diphenylhexatriene, Erythrocyte Membrane, Fibroblasts, Fluorescence Polarization, Fluorescent Dyes, Humans, Lymphocytes, Male, Membrane Fluidity, Plasmalogens, Radiography, Skin
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