AI Article Synopsis
- An infant exhibited classical rhizomelic chondrodysplasia punctata and was diagnosed with a specific deficiency in the peroxisomal enzyme DHAP-AT.
- This case adds to the existing literature on peroxisomal disorders, confirming a unique form characterized primarily by impaired plasmalogen biosynthesis.
- While other peroxisomal functions remained normal, this finding highlights the complexity and variability of biochemical disorders related to peroxisomal enzyme deficiencies.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1793893 | PMC |
| http://dx.doi.org/10.1136/adc.68.3.415 | DOI Listing |
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