Skip to main content
SpringerLink
Log in

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

  • Published:
Journal of Inherited Metabolic Disease

Summary

Dihydroxyacetone-phosphate acyltransferase (DHAPAT) is a peroxisomal enzyme catalysing the first step in ether-phospholipid biosynthesis. DHAPAT is deficient in cells from patients suffering from a variety of peroxisomal disorders. Accurate measurement of the activity of this enzyme is of great importance, especially since it is a central parameter in the prenatal diagnosis of the disorders of peroxisome biogenesis, rhizomelic chondrodysplasia punctata and DHAPAT-deficiency. We describe a straightforward and accurate assay allowing the activity of DHAPAT to be measured reliably in chorionic villus samples, blood cells, cultured skin fibroblasts, cultured chorionic villus fibroblasts and cultured amniocytes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Barr DGD, Kirk JM, Al Howasi M, Wanders RJA, Schutgens RBH (1993) Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.Arch Dis Child 68: 415–417.

    Google Scholar 

  • Barth PG, Schutgens RBH, Wanders RJA, et al (1987) A sibship with a mild variant of Zellweger syndrome.J Inher Metab Dis 10: 253–259.

    Google Scholar 

  • Barth PG, Wanders RJA, Schutgens RBH, Bleeker-Wagemakers EM, Van Heemstra D (1990) β-Oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course.Eur J Pediatr 149: 722–726.

    Google Scholar 

  • Bleeker-Wagemaker EM, Oorthuys JWE, Wanders RJA, Schutgens RBH (1986) Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.Clin Genet 29: 160–164.

    Google Scholar 

  • Chung KF (1992) Platelet-activating factor in inflammation and pulmonary disorders.Clin Sci 83: 127–138.

    Google Scholar 

  • Clayton PT, Lake BD, Hjelm M, et al (1988) Bile acid analyses in pseudo-Zellweger syndrome: clues to the defect in peroxisomal β-oxidation.J Inher Metab Dis 11: 165–168.

    Google Scholar 

  • Clayton PT, Eckhardt S, Wilson J, et al (1994) Isolated dihydroxyacetone-phosphate acyltransferase deficiency presenting with developmental delay.J Inher Metab Dis 17: 533–540.

    Google Scholar 

  • Davis PA, Hajra AK (1979) Stereochemical specificity of the biosynthesis of the alkyl ether bond in ether lipids.J Biol Chem 254: 4760–4763.

    Google Scholar 

  • De Clerq PE, Haagsman HP, Van Veldhoven PP, Debeer LJ, Van Golde LM, Mannaerts GP (1984) Rat liver dihydroxyacetone-phosphate acyltransferase and their contribution to glycerolipid synthesis.J Biol Chem 259: 9064–9075.

    Google Scholar 

  • Espeel M, Roels F, Van Maldergem L, et al (1991) Peroxisomal localization of the immunoreactive β-oxidation enzymes in a neonate with a β-oxidation defect: pathological observations in liver, adrenal cortex and kidney.Virchows Arch A (Pathol Anat) 419: 339–347.

    Google Scholar 

  • Goldfischer S, Collins J, Rapin I, et al (1986) Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.J Pediatr 108: 25–32.

    Google Scholar 

  • Hajra AK, Bishop JE (1982) Glycerolipid biosynthesis in peroxisomes via the acyldihydroxyacetone phosphate pathway.Ann NY Acad Sci 386: 170–182.

    Google Scholar 

  • Hardeman D, Van den Bosch H (1988) Rat liver dihydroxyacetone-phosphate acyltransferase: enzyme characteristics and localization studies.Biochim Biophys Acta 963: 1–9.

    Google Scholar 

  • Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH (1985) Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.N Engl J Med 313: 187–188.

    Google Scholar 

  • Hoefler G, Hoefler S, Watkins PA, et al (1988) Biochemical abnormalities in rhizomelic chondrodysplasia punctata.J Pediatr 112: 726–733.

    Google Scholar 

  • Jones CL, Hajra AK (1980) Properties of guinea pig liver peroxisomal dihydroxyacetone phosphate acyltransferase.J Biol Chem 255: 8289–8295.

    Google Scholar 

  • Kelley RI, Datta NS, Dobijns WS, et al (1986) Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger syndrome and related peroxisomal polydystrophy syndromes.Am J Med Genet 23: 869–901.

    Google Scholar 

  • Mandel H, Berant M, Aizin A, et al (1992) Zellweger-like phenotype in two siblings: a defect in peroxisomal β-oxidation with elevated very-long-chain fatty acids but normal bile acids.J Inher Metab Dis 15: 381–384.

    Google Scholar 

  • Naidu S, Hoefler G, Watkins PA, et al (1988) Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy.Neurology 38: 1100–1107.

    Google Scholar 

  • Ofman R, Wanders RJA (1994) Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta.Biochim Biophys Acta 1206: 27–34.

    Google Scholar 

  • Poll-Thé BT, Saudubray JM, Ogier HAM, et al (1987) Infantile Refsum disease: an inherited peroxisomal disorder and comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.Eur J Pediatr 146: 477–483.

    Google Scholar 

  • Poll-Thé BT, Roels F, Ogier HAM, et al (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo neonatal adrenoleukodystrophy).Am J Hum Genet 42: 422–434.

    Google Scholar 

  • Santer R, Claviez A, Oldigs HD, Schaub J, Schutgens RBH, Wanders RJA (1993) Isolated defect of peroxisomal β-oxidation in a 16-year-old patient.Eur J Pediatr 152: 339–342.

    Google Scholar 

  • Schram AW, Goldfischer S, Van Roermund CWT, et al (1987) Human peroxisomal 3-oxoacylcoenzyme A thiolase deficiency.Proc Natl Acad Sci USA 84: 2494–2496.

    Google Scholar 

  • Schutgens RBH, Romeijn GJ, Wanders RJA, et al (1984) Deficiency of acyl-CoA: dihydroxyacetonephosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.Biochem Biophys Res Commun 120: 179–184.

    Google Scholar 

  • Schutgens RBH, Romeijn GJ, Ofman R, Van den Bosch H, Tager JM, Wanders RJA (1986) Acyl-CoA: dihydroxyacetonephosphate acyltransferase: study of its properties using a new assay method.Biochim Biophys Acta 879: 286–291.

    Google Scholar 

  • Schutgens RBH, Heijmans HSA, Wanders RJA, et al (1988) Multiple peroxisomal enzyme deficiencies in rhizomelic chondrodysplasia punctata: comparison with Zellweger syndrome, Conradi-Hunermann syndrome and X-linked dominant chondrodysplasia punctata.Adv Clin Enzymol 6: 57–65.

    Google Scholar 

  • Schutgens RBH, Schrakamp G, Wanders RJA, Heijmans HSA, Tager JM, Van den Bosch H (1989) Pre- and perinatal diagnosis of peroxisomal disorders.J Inher Metab Dis 12: 118–134.

    Google Scholar 

  • Suzuki Y, Shimozawa N, Yajima S, et al (1994) Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme proteins: identification by means of complementation analysis.Am J Hum Genet 54: 36–43.

    Google Scholar 

  • Van den Bosch H, Schutgens RBH, Wanders RJA, Tager JM (1992) Biochemistry of peroxisomes.Annu Rev Biochem 61: 157–197.

    Google Scholar 

  • Van Maldergem L, Espeel M, Wanders RJA, et al (1992) Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation.Neuromusc Disord 2: 217–224.

    Google Scholar 

  • Wanders RJA, Van Weringh G, Schrakamp G, Tager JM, Van den Bosch H, Schutgens RBH (1985) Deficiency of acyl-CoA: dihydroxyacetonephosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal test.Clin Chim Acta 151: 217–221.

    Google Scholar 

  • Wanders RJA, Van Roermund CWT, Van Wijland MJA, et al (1987) Peroxisomal fatty acid β-oxidation in relation to the accumulation of very-long-chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.J Clin Invest 80: 1778–1783.

    Google Scholar 

  • Wanders RJA, Heijmans HSA, Schutgens RBH, Barth PG, Van den Bosch H, Tager JM (1988) Peroxisomal disorders in neurology.J Neurol Sci 88: 1–39.

    Google Scholar 

  • Wanders RJA, Schelen A, Feller N, et al (1990a) First prenatal diagnosis of acyl-CoA oxidase deficiency.J Inher Metab Dis 13: 371–374.

    Google Scholar 

  • Wanders RJA, Van Roermund CWT, Schelen A, et al (1990b) Bifunctional protein with deficient activity: identification of a new peroxisomal disorder.J Inher Metab Dis 13: 375–379.

    Google Scholar 

  • Wanders RJA, Schumacher H, Heikoop J, Schutgens RBH, Tager JM (1992a) Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder.J Inher Metab Dis 15: 389–391.

    Google Scholar 

  • Wanders RJA, Van Roermund CWT, Brul S, Schutgens RBH, Tager JM (1992b) Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal β-oxidation of unknown aetiology by means of complementation analysis.J Inher Metab Dis 15: 385–388.

    Google Scholar 

  • Wanders RJA, Schutgens RBH, Barth PG, Tager JM, Van den Bosch H (1993) Postnatal diagnosis of peroxisomal disorders: a biochemical approach.Biochimie 75: 269–279.

    Google Scholar 

  • Watkins PA, Chen WW, Harris CJ, et al (1989) Peroxisomal bifunctional enzyme deficiency.J Clin Invest 83: 771–777.

    Google Scholar 

  • Webber KO, Hajra AK (1993) Purification of dihydroxyacetonephosphate acyltransferase from guinea pig liver peroxisomes.Arch Biochem Biophys 300: 88–97.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Academic Medical Centre, Departments of Pediatrics and Clinical Chemistry, Laboratory of Pediatric Clinical Chemistry, Section for Clinical Enzymology, University Hospital Amsterdam, The Netherlands

    R. J. A. Wanders, R. Ofman, G. J. Romeijn, R. B. H. Schutgens, P. A. W. Mooijer & C. Dekker

  2. Centre for Biomembranes and Lipid Enzymology, University of Utrecht, Utrecht, The Netherlands

    H. van den Bosch

Authors
  1. R. J. A. Wanders
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Ofman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. G. J. Romeijn
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. B. H. Schutgens
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. P. A. W. Mooijer
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. Dekker
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. H. van den Bosch
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wanders, R.J.A., Ofman, R., Romeijn, G.J. et al. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells. J Inherit Metab Dis 18 (Suppl 1), 90–100 (1995). https://doi.org/10.1007/BF00711432

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711432

Keywords

Search

Navigation