Summary
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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Clayton, P.T., Eckhardt, S., Wilson, J. et al. Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. J Inherit Metab Dis 17, 533–540 (1994). https://doi.org/10.1007/BF00711587
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DOI: https://doi.org/10.1007/BF00711587