PMID: 9165515Apr 1, 1997Paper

Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency

Pediatric Neurology
L SztrihaD B Bakalinova

Abstract

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.

References

Jan 1, 1992·Journal of Inherited Metabolic Disease·R J WandersJ M Tager
Jan 1, 1994·Journal of Inherited Metabolic Disease·P T ClaytonR B Schutgens
Jan 1, 1994·Journal of Inherited Metabolic Disease·R J WandersD Lecoutere
Jan 1, 1994·Journal of Inherited Metabolic Disease·B FournierB T Poll-The
Jan 1, 1993·Journal of Inherited Metabolic Disease·B E Kendall

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Citations

May 29, 2004·Biochimica Et Biophysica Acta·Pedro BritesRonald J A Wanders
Mar 29, 2001·Progress in Lipid Research·N Nagan, R A Zoeller
Apr 21, 2004·American Journal of Medical Genetics. Part a·Ronald J A Wanders
Jul 24, 2015·Brain Pathology·Stephanie De MunterMyriam Baes
May 18, 2005·Journal of Neuroscience Research·Mushfiquddin KhanAvtar K Singh
Oct 24, 2006·Biochimica Et Biophysica Acta·Ronald J A Wanders, Hans R Waterham

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