Assuntos
Varizes Esofágicas e Gástricas/cirurgia , Hemorragia Gastrointestinal/cirurgia , Doença de Gaucher/complicações , Transplante de Fígado , Criança , Varizes Esofágicas e Gástricas/etiologia , Feminino , Hemorragia Gastrointestinal/etiologia , Doença de Gaucher/patologia , Glucosilceramidas/análise , Humanos , Fígado/análise , Fígado/patologiaRESUMO
Normal human skin fibroblasts and those from methylmalonic acidemia and propionic acidemia patients were grown in culture. Following incubation with [1-14C]propionate, the major lipid classes in the cells were separated by thin layer chromatography and isolated fractions analyzed by radio gas chromatography for the presence of odd-numbered long-chain fatty acids; the pattern of even-numbered long-chain fatty acids was obtained also. Normal fibroblasts incorporated a small percentage of propionate into odd-numbered fatty acids which were present in all lipids studied. The abnormal cells incorporated a larger amount while maintaining the characteristic ratios of odd-numbered fatty acids found in the normal line. Most of the radioactivity was associated with phospholipids which are the predominant constituents of cell membranes. A characteristic C15/C17 ratio was found for different phospholipids and the triglyceride fraction; pentadecanoic acid was the principal odd-numbered fatty acid utilized in the assembly of complex lipids. Compared to even-numbered long-chain fatty acids the absolute amount of odd-numbered fatty acids was low (1-2%), even in affected cells. An unusual polar lipid fraction was isolated in the course of the study. In the normal cell it contained several unlabeled eicosanoids which were missing from the same fraction of both affected cell lines.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Carboxiliases/deficiência , Isomerases/deficiência , Metilmalonil-CoA Mutase/deficiência , Propionatos/metabolismo , Pele/metabolismo , Autorradiografia , Radioisótopos de Carbono , Linhagem Celular , Células Cultivadas , Cromatografia em Camada Fina , Fibroblastos/metabolismo , Humanos , Metilmalonil-CoA Descarboxilase , Valores de Referência , Ácidos Esteáricos/metabolismoRESUMO
This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity, but propionyl-CoA carboxylase activity was normal. Administration of various vitamins in large amounts did not improve the clinical condition. In contrast, the patient began to thrive when her diet was supplemented with aspartic acid, asparagine, glutamic acid, and glutamine. The particular dietary treatment used and the biochemical findings merit consideration for management of future cases.
