Abstract
Heymans et al (New Engl. J. Med. 313: 187, 1985) have reported deficient dihydroxyacetone phosphate acyltransferase (DHAP-AT) in the autosomal recessive, rhizomelic form of chondrodysplasia punctata. We describe a partial deficiency of this peroxisomal enzyme in a female child with a dominant form of chondrodysplasia punctata (Conradi-Hunerman syndrome; chondrodysplasia calcificans congenita). Clinical manifestations in the child (age 7 months) included short stature, dysmorphic face with frontal bossing, shallow nasal bridge, shortened nose, brachycephaly and patchy alopecia; bilateral lenticular cataracts; asymmetric shortening of the left femur with scoliosis and multiple epiphyseal, punctate calcifications; ichthyosis prominent at birth with residual swirls of hyperkeratotic skin. Her mother (age 39) had an adult height of 56 inches with similar clinical findings; she had a normal daughter by a different husband, two normal brothers, and no history of miscarriages or consanguinity. Activity of fibroblast DHAP-AT was 0.16 nmol per min per mg protein in the daughter and 0.46 in the mother compared to 0.50 in controls. Erythrocyte plasmalogens were normal in both patients. Other indices of peroxisomal dysfunction such as very long chain fatty acids, phytanic acid, and peroxisomal morphology were normal except for a qualitatively elevated urinary pipecolic acid in the child. These results add another disorder to the expanding spectrum of peroxisomal disease.
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Holmes, R., Hajra, A. & Wilson, G. PEROXISOMAL ENZYME DEFICIENCY IN THE CONRADI-HUNERMAN FORM OF CHONDRODYSPLASIA PUNCTATA. Pediatr Res 21 (Suppl 4), 228 (1987). https://doi.org/10.1203/00006450-198704010-00369
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DOI: https://doi.org/10.1203/00006450-198704010-00369