THE MANAGEMENT AND OUTCOME OF PROPIONIC AND METHYLMALONIC ACIDEMIA

被引:67
作者
LEONARD, JV
机构
[1] The Metabolic Unit, The London Centre for Endocrinology and Metabolism, The Institute of Child Health, London
关键词
D O I
10.1007/BF00710054
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The management of the severe variants of methylmalonic and propionic acidaemia remains difficult. With conventional therapy of diet, carnitine and antibiotics, mortality is high and long-term complications are common. Liver transplantation appears to be an important alternative.
引用
收藏
页码:430 / 434
页数:5
相关论文
共 29 条
[1]  
BAIN MD, 1994, 32ND SSIEM ANN M ED
[2]   METABOLISM OF 1-C-13-PROPIONATE INVIVO IN PATIENTS WITH DISORDERS OF PROPIONATE METABOLISM [J].
BARSHOP, BA ;
YOSHIDA, I ;
AJAMI, A ;
SWEETMAN, L ;
WOLFF, JA ;
SWEETMAN, FR ;
PRODANOS, C ;
SMITH, M ;
NYHAN, WL .
PEDIATRIC RESEARCH, 1991, 30 (01) :15-22
[3]  
BAUMGARTNER ER, 1994, 32ND SSIEM ANN M ED
[4]   CARDIOMYOPATHY IN PROPIONIC ACIDEMIA [J].
COLLINS, J ;
KELLY, D .
EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (01) :53-53
[5]   RENAL TUBULAR DYSFUNCTION IN METHYLMALONIC ACIDEMIA [J].
DANGIO, CT ;
DILLON, MJ ;
LEONARD, JV .
EUROPEAN JOURNAL OF PEDIATRICS, 1991, 150 (04) :259-263
[6]   ACRODERMATITIS ENTEROPATHICA-LIKE CUTANEOUS LESIONS IN ORGANIC ACIDURIA [J].
DERAEVE, L ;
DEMEIRLEIR, LD ;
RAMET, J ;
VANDENPLAS, Y ;
GERLO, E .
JOURNAL OF PEDIATRICS, 1994, 124 (03) :416-420
[7]   ACUTE EXTRAPYRAMIDAL SYNDROME IN METHYLMALONIC ACIDEMIA - METABOLIC STROKE INVOLVING THE GLOBUS PALLIDUS [J].
HEIDENREICH, R ;
NATOWICZ, M ;
HAINLINE, BE ;
BERMAN, P ;
KELLEY, RI ;
HILLMAN, RE ;
BERRY, GT .
JOURNAL OF PEDIATRICS, 1988, 113 (06) :1022-1027
[8]   PANCREATITIS IN PATIENTS WITH ORGANIC ACIDEMIAS [J].
KAHLER, SG ;
SHERWOOD, WG ;
WOOLF, D ;
LAWLESS, ST ;
ZARITSKY, A ;
BONHAM, J ;
TAYLOR, CJ ;
CLARKE, JTR ;
DURIE, P ;
LEONARD, JV .
JOURNAL OF PEDIATRICS, 1994, 124 (02) :239-243
[9]   ISOLATION OF CDNA CLONES CODING FOR THE ALPHA-CHAIN AND BETA-CHAIN OF HUMAN PROPIONYL-COA CARBOXYLASE - CHROMOSOMAL ASSIGNMENTS AND DNA POLYMORPHISMS ASSOCIATED WITH PCCA AND PCCB GENES [J].
LAMHONWAH, AM ;
BARANKIEWICZ, TJ ;
WILLARD, HF ;
MAHURAN, DJ ;
QUAN, F ;
GRAVEL, RA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (13) :4864-4868
[10]   CORRECTION OF THE METABOLIC DEFECT IN PROPIONIC ACIDEMIA FIBROBLASTS BY MICROINJECTION OF A FULL-LENGTH CDNA OR RNA TRANSCRIPT ENCODING THE PROPIONYL-COA CARBOXYLASE BETA-SUBUNIT [J].
LAMHONWAH, AM ;
LECLERC, D ;
LOYER, M ;
CLARIZIO, R ;
GRAVEL, RA .
GENOMICS, 1994, 19 (03) :500-505