LONG-TERM L-CARNITINE TREATMENT IN ISOVALERIC ACIDEMIA

被引：16
作者：
MAYATEPEK, E
KURCZYNSKI, TW
HOPPEL, CL
机构：
[1] MED COLL OHIO, DEPT PEDIAT, TOLEDO, OH 43699 USA
[2] VET ADM MED CTR, DEPT MED, CLEVELAND, OH 44106 USA
[3] VET ADM MED CTR, DEPT PHARMACOL, CLEVELAND, OH 44106 USA
[4] CASE WESTERN RESERVE UNIV, SCH MED, CLEVELAND, OH 44106 USA
来源：
PEDIATRIC NEUROLOGY | 1991年 / 7卷 / 02期
关键词：
D O I：
10.1016/0887-8994(91)90011-9
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 5-year-old girl with isovaleric acidemia was treated with long-term L-carnitine and no supplemental glycine. Clinical and laboratory data are presented. Following diagnosis and treatment at age 2 years, the frequency of acute exacerbations of metabolic acidosis was reduced and she resumed normal growth and development. L-carnitine supplementation and protein restriction may be sufficient for effective therapy of isovaleric acidemia.
引用
收藏
页码：137 / 140
页数：4
相关论文
共 13 条
[1]  
BRASS EP, 1978, J BIOL CHEM, V253, P2688
[2]   ISOVALERIC ACIDEMIA - CLINICAL FEATURES OF A NEW GENETIC DEFECT OF LEUCINE METABOLISM [J].
BUDD, MA ;
TANAKA, K ;
HOLMES, LB ;
EFRON, ML ;
CRAWFORD, JD ;
ISSELBAC.KJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1967, 277 (07) :321-&
[3]  
Chalmers R, 1983, BIOCHEM SOC T, V11, P724
[4]   URINARY-EXCRETION OF L-CARNITINE AND ACYLCARNITINES BY PATIENTS WITH DISORDERS OF ORGANIC-ACID METABOLISM - EVIDENCE FOR SECONDARY INSUFFICIENCY OF L-CARNITINE [J].
CHALMERS, RA ;
ROE, CR ;
STACEY, TE ;
HOPPEL, CL .
PEDIATRIC RESEARCH, 1984, 18 (12) :1325-1328
[5]   THE RESPONSE TO L-CARNITINE AND GLYCINE THERAPY IN ISOVALERIC ACIDEMIA [J].
DESOUSA, C ;
CHALMERS, RA ;
STACEY, TE ;
TRACEY, BM ;
WEAVER, CM ;
BRADLEY, D .
EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) :451-456
[6]   PROPIONYLCARNITINE EXCRETION IN PROPIONIC AND METHYLMALONIC ACIDURIAS - A CAUSE OF CARNITINE DEFICIENCY [J].
DIDONATO, S ;
RIMOLDI, M ;
GARAVAGLIA, B ;
UZIEL, G .
CLINICA CHIMICA ACTA, 1984, 139 (01) :13-21
[7]  
GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P1
[8]  
LEVY HL, 1973, PEDIATRICS, V52, P83
[9]   THE TREATMENT OF ISOVALERIC ACIDEMIA WITH GLYCINE SUPPLEMENT [J].
NAGLAK, M ;
SALVO, R ;
MADSEN, K ;
DEMBURE, P ;
ELSAS, L .
PEDIATRIC RESEARCH, 1988, 24 (01) :9-13
[10]   L-CARNITINE THERAPY IN ISOVALERIC ACIDEMIA [J].
ROE, CR ;
MILLINGTON, DS ;
MALTBY, DA ;
KAHLER, SG ;
BOHAN, TP .
JOURNAL OF CLINICAL INVESTIGATION, 1984, 74 (06) :2290-2295
12