A Case of Rhizomelic Chondrodysplasia Punctata Type I
Journal of the Korean Pediatric Society
;
: 1585-1590, 2002.
Artículo
en Coreano
| WPRIM
| ID: wpr-44855
ABSTRACT
Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ácido Fitánico
/
Catarata
/
Proteínas del Sistema Complemento
/
Condrodisplasia Punctata Rizomélica
/
Contractura
/
Extremidades
/
Fibroblastos
/
Articulaciones
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
2002
Tipo del documento:
Artículo
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