X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.
BACKGROUND
We examined an 18-month-old girl with typical clinical features of X-linked dominant chondrodysplasia punctata (CDPX2) with decreased activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT), previously reported in CDPX2. On the other hand, steroid sulfatase, whose activity is deficient or decreased in X-linked ichthyosis and X-linked recessive chondrodysplasia punctata, has been reported to be normal in CDPX2, although all of these diseases have ichthyotic skin changes.


OBJECTIVE
We measured the activity of DHAP-AT and steroid sulfatase of the patients fibroblasts to confirm the DHAP-AT abnormality in CDPX2.


RESULTS
The DHAP-AT activity was remarkably reduced, but steroid sulfatase activity was within normal levels when compared with those of 2 healthy controls.


CONCLUSIONS
The abnormal metabolism in plasmalogen synthesis in CDPX2 was confirmed. It is, however, unknown how the decreased DHAP-AT activity is related to the skin changes.
Sato
M
M
Department of Dermatology, Gunma University School of Medicine, Maebashi, Japan.
Ishikawa
O
O
Miyachi
Y
Y
D000217:Acyltransferases / Q000032:analysis / Q000378:metabolism*; D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D014960:X Chromosome / Q000473:pathology*
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase