Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings
| Autor: | H Hebestreit, A Marx, Rbh Schutgens, Frank Roels, B Schmausser, Ingrid Kerckaert, Rja Wanders, Marc Espeel, Lothar Schrod |
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| Přispěvatelé: | Other departments |
| Rok vydání: | 1996 |
| Předmět: |
Male
musculoskeletal diseases medicine.medical_specialty Pathology Plasmalogen Immunocytochemistry Biology Kidney Microbodies Internal medicine Peroxisomal disorder medicine Humans Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Chondrodysplasia Punctata Rhizomelic Thiolase Infant Newborn Peroxisome medicine.disease Immunohistochemistry Osteochondrodysplasia Endocrinology Liver Pediatrics Perinatology and Child Health Autopsy Acyltransferases |
| Zdroj: | European journal of pediatrics, 155(12), 1035-1039. Springer Verlag |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf02532526 |
| Popis: | 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. CONCLUSION: 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 |
| Databáze: | OpenAIRE |
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