The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
N Engl J Med
; 310(18): 1141-6, 1984 May 03.
Article
en En
| MEDLINE
| ID: mdl-6709009
The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profound hypotonia, psychomotor retardation, dysmorphic features, and an enlarged liver. In this study we demonstrate fivefold or greater increases of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and hexacosenoic acid (C26:1), in plasma and cultured skin fibroblasts from 20 patients. Similar findings in cultured amniocytes from 3 of 14 women in whom the fetus was at risk of the Zellweger syndrome permitted prenatal diagnosis. Oxidation of very-long-chain fatty acids, which normally takes place in the peroxisome, was impaired in homogenates of cultured skin fibroblasts and amniocytes. This observation extends the evidence that the Zellweger syndrome belongs to the newly formulated category of peroxisomal disorders. The pattern of excess very-long-chain fatty acids differs from that demonstrated previously in patients with childhood adrenoleukodystrophy. The study of very-long-chain fatty acids provides a convenient method for the early diagnosis and prenatal detection of the Zellweger syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Anomalías Múltiples
/
Encefalopatías
/
Ácidos Grasos Monoinsaturados
/
Enfermedades Renales Quísticas
/
Ácidos Grasos
/
Hepatopatías
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
N Engl J Med
Año:
1984
Tipo del documento:
Article
Pais de publicación:
Estados Unidos