Zellweger Syndrome : First Confirmed Neonatal Case in Korea
Journal of the Korean Pediatric Society
;
: 694-698, 2001.
Article
Dans Coréen
| WPRIM
| ID: wpr-163493
ABSTRACT
We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked by the absence of hepatic and renal peroxisomes. Because peroxisomes have many vital anabolic and catabolic functions within the cell, their absence results in profound cellular dysfunction. A biochemical study of plasma revealed elevation of very long chains of fatty acids and pipecolic acid, consistent with peroxisomal disorder. The cultured skin fibroblasts showed a marked decrease in plasmalogen synthesis enzyme dihydroxyacetonephosphate acyl transferase(DHAP-AT) The clinical characteristics and biochemical findings led to the diagnosis of Zellweger syndrome. The pattern of inheritance is autosomal recessive, hence genetic counseling can help the families. In infantile hypotonia patients with unknown cause, peroxisomal disorder should be included in the differential diagnosis. We report the first confirmed case of Zellweger syndrome by enzyme assay in Korea.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Plasma sanguin
/
Peau
/
Testaments
/
Syndrome de Zellweger
/
Maladies péroxysomiales
/
Techniques de culture cellulaire
/
Péroxysomes
/
Diagnostic
/
Diagnostic différentiel
/
Acides gras
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
/
Nouveau-né
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Journal of the Korean Pediatric Society
Année:
2001
Type:
Article
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