rhizomelic chondrodysplasia punctata

Summary

Summary: An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)

Top Publications

  1. Motley A, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, et al. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet. 2002;70:612-24 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, cataracts, ..
  2. Phadke S, Gupta N, Girisha K, Kabra M, Maeda M, Vidal E, et al. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. J Appl Genet. 2010;51:107-10 pubmed publisher
    b>Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones...
  3. White A, Modaff P, Holland Morris F, Pauli R. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003;118A:332-42 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCP) is a rare autosomal recessive disorder with many associated medical complications...
  4. Purdue P, Skoneczny M, Yang X, Zhang J, Lazarow P. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. Neurochem Res. 1999;24:581-6 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease corresponding to complementation group 11 (CG11), the second most common of the thirteen CGs of peroxisomal biogenesis disorders (PBDs)...
  5. Fairbanks T, Emil S. Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. Pediatr Surg Int. 2005;21:662-4 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCP), a rare autosomal recessive disease characterized by a disorder of peroxisome metabolism, has been shown to affect multiple organ systems...
  6. Goh S. Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. Pediatr Neurol. 2007;37:382-4 pubmed
    b>Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and ..
  7. Purdue P, Zhang J, Skoneczny M, Lazarow P. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. 1997;15:381-4 pubmed
    ..These results imply that several peroxisomal proteins are targeted by PTS2 signals and that the various biochemical and clinical defects in RCDP result from a defect in the receptor for this class of PTS...
  8. Braverman N, Steel G, Obie C, Moser A, Moser H, Gould S, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997;15:369-76 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive phenotype that comprises complementation group 11 of the peroxisome biogenesis disorders (PBD)...
  9. Agamanolis D, Novak R. Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. Pediatr Pathol Lab Med. 1995;15:503-13 pubmed
    A 3-year-old girl with rhizomelic chondrodysplasia punctata (RCDP) had severe microcephaly but a normal gyral pattern, neuronal density, and cortical cytoarchitecture...

More Information

Publications69

  1. Viola A, Confort Gouny S, Ranjeva J, Chabrol B, Raybaud C, Vintila F, et al. MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol. 2002;23:480-3 pubmed
    A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood...
  2. Motley A, Hettema E, Hogenhout E, Brites P, Ten Asbroek A, Wijburg F, et al. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet. 1997;15:377-80 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately short stature primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, ..
  3. Khanna A, Braverman N, Valle D, Sponseller P. Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet. 2001;99:63-6 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disorder leading to multiple developmental malformations, including skeletal deformity. Specifically, involvement of the vertebral bodies has been described...
  4. Barth P, Wanders R, Schutgens R, Staalman C. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. Am J Med Genet. 1996;62:164-8 pubmed
    ..Fibroblasts from our patient could also be assigned to this complementation group suggesting that the phenotypic variability results from different mutations within the same gene...
  5. Sztriha L, al Gazali L, Wanders R, Ofman R, Nork M, Lestringant G. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev Med Child Neurol. 2000;42:492-5 pubmed
    ..She had rhizomelic chondrodysplasia punctata, microcephaly, failure to thrive, delayed motor and mental development, and spastic quadriplegia...
  6. Bams Mengerink A, Majoie C, Duran M, Wanders R, Van Hove J, Scheurer C, et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology. 2006;66:798-803; discussion 789 pubmed
    The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects...
  7. Ofman R, Hettema E, Hogenhout E, Caruso U, Muijsers A, Wanders R. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998;7:847-53 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and ..
  8. Brites P, Motley A, Gressens P, Mooyer P, Ploegaert I, Everts V, et al. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum Mol Genet. 2003;12:2255-67 pubmed
    b>Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities...
  9. Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, et al. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat. 2002;20:284-97 pubmed
    ..Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder...
  10. Powers J, Kenjarski T, Moser A, Moser H. Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. Acta Neuropathol. 1999;98:129-34 pubmed
    ..and loss of Purkinje cells and granular neurons, has been identified in three patients with rhizomelic chondrodysplasia punctata (RCDP)...
  11. Dorninger F, Herbst R, Kravic B, Camurdanoglu B, Macinkovic I, Zeitler G, et al. Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction. J Neurochem. 2017;143:569-583 pubmed publisher
    ..a subgroup of phospholipids whose biosynthesis needs peroxisomes, causes the fatal human disorder rhizomelic chondrodysplasia punctata. The exact roles of ether lipids in the mammalian organism and, therefore, the molecular mechanisms ..
  12. Barøy T, Koster J, Strømme P, Ebberink M, Misceo D, Ferdinandusse S, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015;24:5845-54 pubmed publisher
    ..collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1)...
  13. Yalin C, Bayrak I, Danaci M, Incesu L. [Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn]. Tani Girisim Radyol. 2003;9:100-3 pubmed
    ..We report radiological findings of a patient with rhisomelic chondrodysplasia punctata. Magnetic resonance imaging showed foramen magnum stenosis that caused spinal cord compression. ..
  14. Nagan N, Hajra A, Larkins L, Lazarow P, Purdue P, Rizzo W, et al. Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol. Biochem J. 1998;332 ( Pt 1):273-9 pubmed
    ..the role of ether lipids in cellular functions without complications associated with peroxisome deficiency, and might serve as an animal cell model for certain forms of the human genetic disorder rhizomelic chondrodysplasia punctata.
  15. Rodemer C, Thai T, Brugger B, Kaercher T, Werner H, Nave K, et al. Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. Hum Mol Genet. 2003;12:1881-95 pubmed
    ..Humans that lack ELs suffer from rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder usually resulting in death in early childhood...
  16. Landino J, Jnah A, Newberry D, Iben S. Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. J Perinat Neonatal Nurs. 2017;31:350-357 pubmed publisher
    b>Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern...
  17. Hertzberg B, Kliewer M, Decker M, Miller C, Bowie J. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. J Ultrasound Med. 1999;18:715-8 pubmed
    b>Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones...
  18. Irving M, Chitty L, Mansour S, Hall C. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17:229-41 pubmed publisher
    ..An investigative guideline to help determine the exact diagnosis in new cases is also presented...
  19. Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Kondo N. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. Adv Exp Med Biol. 2003;544:71 pubmed
  20. de Vet E, Ijlst L, Oostheim W, Dekker C, Moser H, van den Bosch H, et al. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. J Lipid Res. 1999;40:1998-2003 pubmed
    ..to the activities measured in fibroblasts from patients affected by the classical form of rhizomelic chondrodysplasia punctata (caused by a defect in peroxisomal targeting signal type 2 import)...
  21. Alkan A, Kutlu R, Yakinci C, Sigirci A, Aslan M, Sarac K. Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. Magn Reson Imaging. 2003;21:77-80 pubmed
    b>Rhizomelic chondrodysplasia punctata is a member of genetic peroxisomal disorders. Delayed myelination, which is probably related to the inadequacy of plasmalogens biosynthesis, is an important feature of this disorder...
  22. Basbug M, Serin I, Ozcelik B, Gunes T, Akcakus M, Tayyar M. Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. Fetal Diagn Ther. 2005;20:171-4 pubmed
    Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling...
  23. Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A. 2010;152A:1812-7 pubmed publisher
    b>Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal-recessive disorder resulting from mutations in one of three peroxisomal genes essential for ether lipid biosynthesis, PEX7 (RCDP1), GNPAT (RCDP2), and AGPS (RCDP3)...
  24. Pahan K, Khan M, Singh I. Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. J Lipid Res. 1996;37:1137-43 pubmed
    ..the pathognomic accumulation of phytanic acid in plasma and body fluids of Refsum disease (RD) and rhizomelic chondrodysplasia punctata (RCDP), we investigated activities of various steps (activation, transport, and oxidation) in the ..
  25. Shanske A, Bernstein L, Herzog R. Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature. Pediatrics. 2007;120:e436-41 pubmed
    Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and ..
  26. Kozlowski K, Godlonton J, Gardner J, Beighton P. Lethal non-rhizomelic dysplasia epiphysealis punctata. Clin Dysmorphol. 2002;11:203-8 pubmed
    ..In this way, accurate categorization of the lethal, non-rhizomelic types of this condition will be facilitated...
  27. Legakis J, Terlecky S. PTS2 protein import into mammalian peroxisomes. Traffic. 2001;2:252-60 pubmed
    ..The ability to monitor PTS2 import in vitro will permit, for the first time, a detailed comparison of the biochemical properties of PTS1 and PTS2 protein import...
  28. Brookhyser K, Lipson M, Moser A, Moser H, Lachman R, Rimoin D. Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. Prenat Diagn. 1999;19:383-5 pubmed
    Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed...
  29. Baumgartner M, Poll The B, Verhoeven N, Jakobs C, Espeel M, Roels F, et al. Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998;44:720-30 pubmed
    ..One patient had a mild form of rhizomelic chondrodysplasia punctata, 1 had classic Refsum disease...
  30. Hebestreit H, Wanders R, Schutgens R, Espeel M, Kerckaert I, Roels F, et al. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. Eur J Pediatr. 1996;155:1035-9 pubmed
    b>Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts...
  31. Jansen G, Mihalik S, Watkins P, Moser H, Jakobs C, Heijmans H, et al. Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 1997;20:444-6 pubmed
  32. Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, et al. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Mol Genet Metab. 2010;99:408-16 pubmed publisher
    b>Rhizomelic chondrodysplasia punctata type 1 is a peroxisome biogenesis disorder with the clinical features of rhizomelia, abnormal epiphyseal calcifications, congenital cataracts, and profound growth and developmental delays...
  33. Steinberg S, Dodt G, Raymond G, Braverman N, Moser A, Moser H. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006;1763:1733-48 pubmed
    ..PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD...
  34. Lazarow P. The import receptor Pex7p and the PTS2 targeting sequence. Biochim Biophys Acta. 2006;1763:1599-604 pubmed
    ..Pex7p is assisted in its functioning by several species-specific auxiliary proteins that are described in the following chapter...
  35. Mandel H, Korman S. Phenotypic variability (heterogeneity) of peroxisomal disorders. Adv Exp Med Biol. 2003;544:9-30 pubmed
    ..The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge demanding a high index of suspicion on the clinician's part...
  36. Depreter M, Espeel M, Roels F. Human peroxisomal disorders. Microsc Res Tech. 2003;61:203-23 pubmed
    ..Finally, regulation of peroxisome expression during development and in cell cultures, and by physiological factors is discussed...
  37. Ghys K, Fransen M, Mannaerts G, Van Veldhoven P. Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. Biochem J. 2002;365:41-50 pubmed
    ..The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol.
  38. Kumada S, Hayashi M, Kenmochi J, Kurosawa S, Shimozawa N, Kratz L, et al. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis. Am J Med Genet. 2001;98:250-5 pubmed
    ..Although his clinical manifestations were similar to those of rhizomelic chondrodysplasia punctata (RCDP), biochemical studies using skin fibroblasts did not document the peroxisomal dysfunction ..
  39. Nerlich A, Freisinger P. Severe rhizomelic skeletal dysplasia in a museum skeleton. Skeletal Radiol. 1998;27:46-9 pubmed
    ..To the best of our knowledge no similar skeletal findings have been described. We suggest that this individual suffered from a hitherto unreported form of skeletal dysplasia...
  40. van der Hoek Y, Wanders R, van den Ende A, Kraft H, Gabel B, Kastelein J, et al. Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders. J Lipid Res. 1997;38:1612-9 pubmed
    ..assay (ELISA) in plasma from patients with cerebro-hepato-renal (Zellweger) syndrome (ZS) and rhizomelic chondrodysplasia punctata (RCDP)...
  41. Violas P, Fraisse B, Chapuis M, Bracq H. Cervical spine stenosis in chondrodysplasia punctata. J Pediatr Orthop B. 2007;16:443-5 pubmed
    ..We discuss the significance of this association...
  42. Sanchez E, Munier F, Evequoz B, Marcoz J, Balmer A. [Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form]. Klin Monbl Augenheilkd. 1997;210:329-31 pubmed
    ..At 11 years of age, a phacoemulsification and intraocular lens implantation was performed in the left eye...
  43. Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. Genomics. 2000;63:181-92 pubmed
    ..PEX7 mutations cause the peroxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP)...
  44. van den Brink D, Wanders R. Phytanic acid: production from phytol, its breakdown and role in human disease. Cell Mol Life Sci. 2006;63:1752-65 pubmed
    ..This review will centre on this research on phytanic acid: its origin, the mechanism by which its alpha-oxidation takes place, its role in human disease and the way it is produced from phytol...
  45. Shimozawa N, Suzuki Y, Zhang Z, Miura K, Matsumoto A, Nagaya M, et al. A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. J Hum Genet. 1999;44:123-5 pubmed
    ..the PEX7 gene encoding a peroxisome targeting signal 2 (PTS2) were identified in two patients with rhizomelic chondrodysplasia punctata (RCDP)...
  46. Moser H. Neurometabolic disease. Curr Opin Neurol. 1998;11:91-5 pubmed
    ..C disease, Refsum disease, and five of the disorders of peroxisome biogenesis, including rhizomelic chondrodysplasia punctata. Duplication of the proteolipid protein gene is the most common molecular abnormality in Pelizaeus ..
  47. Harper P, Latter M, Nicholas F, Cook R, Gill P. Chondrodysplasia in Australian Dexter cattle. Aust Vet J. 1998;76:199-202 pubmed
    ..To describe the occurrence of chondrodysplasia in Australian Dexter cattle...
  48. Fryburg J, Kelly T. Chondrodysplasia punctata, humero-metacarpal type: a second case. Am J Med Genet. 1996;64:493-6 pubmed
    ..He suggested the term "chondrodysplasia punctata, humero-metacarpal (HM)" type. We present our patient as a second case of this form of CP...
  49. Rizzo W. Inherited disorders of fatty alcohol metabolism. Mol Genet Metab. 1998;65:63-73 pubmed
    ..syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease) and peroxisomal protein import (rhizomelic chondrodysplasia punctata) have impaired ether lipid synthesis along with other associated defects in peroxisomal metabolism...
  50. Pascolat G, Zindeluk J, Abrão K, Rodrigues F, Guedes C. [Rhizomelic chondrodysplasia punctata - case report]. J Pediatr (Rio J). 2003;79:189-92 pubmed
    To report a case of rhizomelic chondrodysplasia punctata and present a brief literature review.
  51. Mota C, Vilarinho A, Nogueira A, Lima M. Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. J Pediatr Orthop B. 1997;6:20-3 pubmed
    A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described...
  52. Takahashi Y, Suzuki Y, Kumazaki K, Tanabe Y, Akaboshi S, Miura K, et al. Epilepsy in peroxisomal diseases. Epilepsia. 1997;38:182-8 pubmed
    ..To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases...
  53. Sigirci A, Alkan A, Kutlu R, Gulcan H. Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. J Child Neurol. 2005;20:698-701 pubmed
    A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the ..
  54. Motley A, Tabak H, Smeitink J, Poll The B, Barth P, Wanders R. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group. Biochim Biophys Acta. 1996;1315:153-8 pubmed
    ..We conclude that defects in a single gene can give rise to both clinical phenotypes...
  55. Wijburg M, Wenniger Prick L, Bosch A, Visser G, Bams Mengerink A. [Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]. Ned Tijdschr Geneeskd. 2008;152:632-6 pubmed
    ..At the age of 4 years the diagnosis 'rhizomelic chondrodysplasia punctata' was established...
  56. Razeto A, Mattiroli F, Carpanelli E, Aliverti A, Pandini V, Coda A, et al. The crucial step in ether phospholipid biosynthesis: structural basis of a noncanonical reaction associated with a peroxisomal disorder. Structure. 2007;15:683-92 pubmed publisher
    Ether phospholipids are essential constituents of eukaryotic cell membranes. Rhizomelic chondrodysplasia punctata type 3 is a severe peroxisomal disorder caused by inborn deficiency of alkyldihydroxyacetonephosphate synthase (ADPS)...
  57. Powers J. Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders. J Mol Neurosci. 2001;16:285-7; discussion 317-21 pubmed
  58. Wanders R, Romeijn G. Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis. Biochem Biophys Res Commun. 1998;247:663-7 pubmed
    ..livers from Zellweger patients in which peroxisome biogenesis is defective, but also in livers from rhizomelic chondrodysplasia punctata (RCDP) Type 1 patients...
  59. Raymond G. Peroxisomal disorders. Curr Opin Pediatr. 1999;11:572-6 pubmed
    ..Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are ..
  60. Ofman R, Lajmir S, Wanders R. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. Biochem Biophys Res Commun. 2001;281:754-60 pubmed
    ..Another mutation created an alternative splice donor-site causing the partial deletion of an exon. The data obtained provide conclusive evidence for the major role of GNPAT in etherphospholipid biosynthesis...