Journal of Inherited Metabolic Disease

, Volume 17, Issue 5, pp 533–540

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay


  • P. T. Clayton
    • Hospital for Sick Children
    • Metabolic Disease UnitInstitute of Child Health
  • S. Eckhardt
    • Hospital for Sick Children
  • J. Wilson
    • Hospital for Sick Children
  • C. M. Hall
    • Hospital for Sick Children
  • Y. Yousuf
    • Hospital for Sick Children
  • R. J. A. Wanders
    • Department of Pediatrics and Clinical BiochemistryUniversity of Amsterdam
  • R. B. H. Schutgens
    • Department of Pediatrics and Clinical BiochemistryUniversity of Amsterdam

DOI: 10.1007/BF00711587

Cite this article as:
Clayton, P.T., Eckhardt, S., Wilson, J. et al. J Inherit Metab Dis (1994) 17: 533. doi:10.1007/BF00711587


A boy aged 21 months who was being investigated for developmental delay and failure to thrive was found to have punctate epiphyseal calcification. He had no evidence of rhizomelic shortening of the limbs or cataracts. Investigation revealed defective plasmalogen synthesis due to isolated deficiency of dihydroxyacetonephosphate acyltransferase (DHAP-AT). The parents were consanguineous and a sister was similarly affected, suggesting autosomal recessive inheritance. Hitherto, recessively inherited isolated DHAP-AT deficiency has only been described in patients with a phenotype similar to that of rhizomelic chondrodysplasia punctata. This report indicates that the same biochemical disorder can be associated with a less severe phenotype.

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© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1994