Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 8466247.
- Also identified by PMC identifier 1793893.
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Abstract
An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated deficiency of the peroxisomal enzyme acyl CoA dihydroxyacetone phosphate acyltransferase (DHAP-AT). All other peroxisomal functions measured were found to be normal. Previously described in one other case report, this confirms the existence of another distinct form of peroxisomal disorder characterised biochemically by a deficiency in de novo plasmalogen biosynthesis only.
Medical subject headings
- Acyltransferases
- Chondrodysplasia Punctata