Assays / Genetic Enzymes / Rhizomelic Chondrodysplasia Punctata

The phenotype for this disorder is distinct from that of the generalised peroxisomal disorders. There is proximal shortening of the limbs, extensive punctate calcifications, ichthyosis, cataracts and severe mental retardation. Most patients die within the first year, but survival up to age 16 has been reported.

ENZYME TESTS: Dihydroxyacetone phosphate acyl transferase and plasmalogen biosynthesis are assayed for diagnosis of this disorder.

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