X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.

Abstract

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.

CONCLUSION:

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.

• Authors: M Sato, O Ishikawa, Y Miyachi
• Journal: Dermatology (Basel, Switzerland) (Dermatology) Vol. 192 Issue 1 Pg. 23-7 ( 1996) ISSN: 1018-8665 [Print] Switzerland
• PMID: 8832947 (Publication Type: Case Reports, Clinical Trial, Journal Article)

Chemical References

• Acyltransferases
• glycerone-phosphate O-acyltransferase

Topics

• Acyltransferases (analysis, metabolism)
• Cells, Cultured
• Chondrodysplasia Punctata (diagnosis, enzymology, genetics, physiopathology)
• Female
• Fibroblasts (metabolism)
• Genetic Linkage
• Humans
• Infant, Newborn
• X Chromosome (pathology)