title: Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
abstract: Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic acid oxidation, 3-oxoacyl-CoA thiolase) has been repeatedly shown. Recently a variant involving only the peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) has been described. We present a patient with isolated DHAP-AT deficiency and all clinical, radiological and pathological features of classical RCDP. For the first time, microscopy and immunocytochemistry of hepatocytes could be performed.
  
  
  CONCLUSIONS
  In contrast to studies on classical rhizomelic chondrodysplasia punctata which have shown enlarged peroxisomes in numbers varying from hepatocyte to hepatocyte, the peroxisomes in our patient seem to be normal in size, number and shape.
authors.affiliation: Universitäts Kinderklinik, Würzburg, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Hebestreit
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: M
authors.initials: M
authors.lastname: Espeel
authors.forename: I
authors.initials: I
authors.lastname: Kerckaert
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: B
authors.initials: B
authors.lastname: Schmausser
authors.forename: L
authors.initials: L
authors.lastname: Schrod
authors.forename: A
authors.initials: A
authors.lastname: Marx
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D001344:Autopsy; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000201:enzymology* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D008830:Microbodies / Q000648:ultrastructure
chemical_list: D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase