Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency

László S. Sztriha, Michael P. Nork, Yousef M. Abdulrazzaq, Lihadh I. Al-Gazali, Daniela B. Bakalinova

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17 Citations (Scopus)


The cranial magnetic resonance imaging findings in three siblings with nonrhizomelic chondrodysplasia punctata due to isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency are reported. Areas of high signal intensity in a patchy distribution on the T2-weighted images were detected in the centrum semiovale in the eldest patient (a 6- year-old girl). The white matter of the second child (a 5-year-old boy) was spared, whereas the youngest sibling (a 2-year-old boy) manifested very severe white matter abnormalities. DHAP-AT catalyzes the first step in the synthesis of plasmalogens, which are major constituents of myelin. Defective plasmalogen synthesis may have contributed to abnormal myelin formation in 2 patients. Because the clinical presentation of the child without detectable defect in myelination was similar to that of his siblings, the neurologic signs observed in isolated DHAP-AT deficiency cannot be attributed solely to the disturbances in the myelin formation.

Original languageEnglish
Pages (from-to)232-236
Number of pages5
JournalPediatric Neurology
Issue number3
Publication statusPublished - Apr 1997

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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