2 SISTERS WITH ISOVALERIC ACIDEMIA, MULTIPLE ATTACKS OF KETOACIDOSIS AND NORMAL DEVELOPMENT

被引：13

作者：

DURAN, M ^{[1
]}

VANSPRANG, FJ ^{[1
]}

DREWES, JG ^{[1
]}

BRUINVIS, L ^{[1
]}

KETTING, D ^{[1
]}

WADMAN, SK ^{[1
]}

机构：

[1] ST JANS GASTHUIS,HOORN,NETHERLANDS

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1979年 / 131卷 / 03期

关键词：

Acetonaemic vomiting; Isovaleric acidaemia; Isovalerylglycine;

D O I：

10.1007/BF00538944

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented. © 1979 Springer-Verlag.

引用

收藏

页码：205 / 211

页数：7

相关论文

共 16 条

[1] ISOVALERIC ACIDEMIA PRESENTING WITH ALTERED METABOLISM OF GLYCINE [J].

ANDO, T ;

KLINGBERG, WG ;

WARD, AN ;

RASMUSSEN, K ;

NYHAN, WL .

PEDIATRIC RESEARCH, 1971, 5 (09) :478-+

[2] ISOLATION AND IDENTIFICATION OF ALIPHATIC SHORT-CHAIN ACYLCARNITINES FROM BEEF-HEART - POSSIBLE ROLE FOR CARNITINE IN BRANCHED-CHAIN AMINO-ACID METABOLISM [J].

BIEBER, LL ;

CHOI, YR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (07) :2795-2798

[3]

GUIBAUD P, 1973, ARCH FR PEDIATR, V30, P633

[4] (2-ETHOXYETHOXY)ACETIC ACID - UNUSUAL COMPOUND FOUND IN GAS-CHROMATOGRAPHIC ANALYSIS OF URINARY ORGANIC-ACIDS [J].

KAMERLING, JP ;

DURAN, M ;

BRUINVIS, L ;

KETTING, D ;

WADMAN, SK ;

GROOT, CJD ;

HOMMES, FA .

CLINICA CHIMICA ACTA, 1977, 77 (03) :397-405

[5] THERAPEUTIC EFFECTS OF GLYCINE IN ISOVALERIC ACIDEMIA [J].

KRIEGER, I ;

TANAKA, K .

PEDIATRIC RESEARCH, 1976, 10 (01) :25-29

[6]

LEVY HL, 1973, PEDIATRICS, V52, P83

[7]

MALAN C, 1977, S AFR MED J, V52, P980

[8]

NEWMAN CGH, 1967, LANCET, V2, P439

[9] OCCURRENCE OF ADIPIC AND SUBERIC ACID IN URINE FROM KETOTIC PATIENTS [J].

PETTERSEN, JE ;

JELLUM, E ;

ELDJARN, L .

CLINICA CHIMICA ACTA, 1972, 38 (01) :17-+

[10] PROPIONYL-COA CARBOXYLASE DEFICIENCY WITH OVERFLOW OF METABOLITES OF ISOLEUCINE CATABOLISM AT ALL LEVELS [J].

PRZYREMBEL, H ;

BREMER, HJ ;

DURAN, M ;

BRUINVIS, L ;

KETTING, D ;

WADMAN, SK ;

BAUMGARTNER, R ;

IRLE, U ;

BACHMANN, C .

EUROPEAN JOURNAL OF PEDIATRICS, 1979, 130 (01) :1-14