Literature DB >> 8466247

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.

D G Barr1, J M Kirk, M al Howasi, R J Wanders, R B Schutgens.   

Abstract

An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated deficiency of the peroxisomal enzyme acyl CoA dihydroxyacetone phosphate acyltransferase (DHAP-AT). All other peroxisomal functions measured were found to be normal. Previously described in one other case report, this confirms the existence of another distinct form of peroxisomal disorder characterised biochemically by a deficiency in de novo plasmalogen biosynthesis only.

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Year:  1993        PMID： 8466247      PMCID： PMC1793893          DOI： 10.1136/adc.68.3.415

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  4 in total

1.  Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.

Authors:  R J Wanders; H Schumacher; J Heikoop; R B Schutgens; J M Tager
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals.

Authors:  I Björkhem; L Sisfontes; B Boström; B F Kase; R Blomstrand
Journal:  J Lipid Res       Date:  1986-07       Impact factor: 5.922

3.  Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

Authors:  R B Schutgens; G J Romeyn; R Ofman; H van den Bosch; J M Tager; R J Wanders
Journal:  Biochim Biophys Acta       Date:  1986-12-05

4.  Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.

Authors:  G Schrakamp; C G Schalkwijk; R B Schutgens; R J Wanders; J M Tager; H van den Bosch
Journal:  J Lipid Res       Date:  1988-03       Impact factor: 5.922
  4 in total
  10 in total

Review 1.  Zellweger syndrome and associated phenotypes.

Authors:  D R FitzPatrick
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.

Authors:  R J Wanders; R Ofman; G J Romeijn; R B Schutgens; P A Mooijer; C Dekker; H van den Bosch
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.

Authors:  Noriyuki Kanzawa; Nobuyuki Shimozawa; Ronald J A Wanders; Kazutaka Ikeda; Yoshiko Murakami; Hans R Waterham; Satoru Mukai; Morihisa Fujita; Yusuke Maeda; Ryo Taguchi; Yukio Fujiki; Taroh Kinoshita
Journal:  J Lipid Res       Date:  2012-01-17       Impact factor: 5.922

4.  Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.

Authors:  H Hebestreit; R J Wanders; R B Schutgens; M Espeel; I Kerckaert; F Roels; B Schmausser; L Schrod; A Marx
Journal:  Eur J Pediatr       Date:  1996-12       Impact factor: 3.183

5.  The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.

Authors:  L I al-Gazali; A H Dawodu; K Sabarinathan; M Varghese
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

6.  Chondrodysplasia punctata with a mild clinical course.

Authors:  J M Nuoffer; J P Pfammatter; A Spahr; H Toplak; R J Wanders; R B Schutgens; U N Wiesmann
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

Authors:  Alana Aylward; Yi Cai; Andrew Lee; Elizabeth Blue; Daniel Rabinowitz; Joseph Haddad
Journal:  Genet Epidemiol       Date:  2016-05-27       Impact factor: 2.135

8.  Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

Authors:  P T Clayton; S Eckhardt; J Wilson; C M Hall; Y Yousuf; R J Wanders; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.

Authors:  Wedad Fallatah; Wei Cui; Erminia Di Pietro; Grace T Carter; Brittany Pounder; Fabian Dorninger; Christian Pifl; Ann B Moser; Johannes Berger; Nancy E Braverman
Journal:  Front Cell Dev Biol       Date:  2022-07-11

10.  An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn.

Authors:  Sitangshu Chatterjee; Praytay Roy; Ira Das; M K Sinha
Journal:  J Clin Neonatol       Date:  2013-04
  10 in total

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