RESUMO
We found an elevation of very long chain fatty acids in 13 of 22 plasma samples from patients on a ketogenic diet for the treatment of uncontrolled seizures. Because elevated values of very long chain fatty acids are a biochemical manifestation of peroxisomal dysfunction, this phenomenon might lead to diagnostic confusion. Thus the history and clinical status should be considered when plasma levels of very long chain fatty acids are interpreted.
Assuntos
Gorduras na Dieta/administração & dosagem , Epilepsia/sangue , Ácidos Graxos/sangue , Corpos Cetônicos/urina , Adolescente , Criança , Pré-Escolar , Gorduras na Dieta/metabolismo , Epilepsia/dietoterapia , Feminino , Humanos , Lactente , MasculinoAssuntos
Microcorpos/enzimologia , Adrenoleucodistrofia/enzimologia , Animais , Encefalopatias/enzimologia , Criança , Pré-Escolar , Condrodisplasia Punctata/enzimologia , Humanos , Lactente , Recém-Nascido , Nefropatias/enzimologia , Hepatopatias/enzimologia , Ácidos Pipecólicos/sangue , Ratos , Doença de Refsum/enzimologia , SíndromeAssuntos
Amidoidrolases/deficiência , Esfingolipidoses/genética , Ceramidases , Ensaios Enzimáticos Clínicos , Feminino , Cabeça do Fêmur/diagnóstico por imagem , Variação Genética , Humanos , Úmero/diagnóstico por imagem , Lactente , Masculino , Fenótipo , Radiografia , Esfingolipidoses/diagnósticoRESUMO
The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.
Assuntos
Adrenoleucodistrofia/genética , Esclerose Cerebral Difusa de Schilder/genética , Heterozigoto , Adolescente , Adrenoleucodistrofia/sangue , Adrenoleucodistrofia/diagnóstico , Adulto , Idoso , Criança , Pré-Escolar , Ácidos Graxos/análise , Feminino , Fibroblastos/análise , Humanos , Pessoa de Meia-Idade , Pele/análiseRESUMO
The enzyme defect in Farber disease, a deficiency of acid ceramidase, has been demonstrated in cultured skin fibroblasts, which provides a means of confirming the diagnosis during life. The assay can also be performed using cultured amniotic fluid cells and is a potential tool for detection of carriers of the disease.