RETT-SYNDROME IN A PATIENT WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

被引：7

作者：

BEEKMAN, RP ^{[1
]}

HOFSTEE, N ^{[1
]}

SMEITINK, JAM ^{[1
]}

POLLTHE, BT ^{[1
]}

DURAN, M ^{[1
]}

机构：

[1] TWENTEBORG HOSP,ALMELO,NETHERLANDS

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1994年 / 153卷 / 04期

关键词：

RETT SYNDROME; MCAD DEFICIENCY;

D O I：

10.1007/s004310050133

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years.

引用

收藏

页码：264 / 266

页数：3

相关论文

共 13 条

[1] RETT SYNDROME AND MITOCHONDRIAL ENZYME DEFICIENCIES [J].

COKER, SB ;

MELNYK, AR .

JOURNAL OF CHILD NEUROLOGY, 1991, 6 (02) :164-166

[2] DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN LYMPHOCYTES AND LIVER BY A GAS-CHROMATOGRAPHIC METHOD - THE EFFECT OF ORAL RIBOFLAVIN SUPPLEMENTATION [J].

DURAN, M ;

CLEUTJENS, CBJM ;

KETTING, D ;

DORLAND, L ;

DEKLERK, JBC ;

VANSPRANG, FJ ;

BERGER, R .

PEDIATRIC RESEARCH, 1992, 31 (01) :39-42

[3]

DURAN M, 1986, PEDIATRICS, V78, P1052

[4]

DURAN M, 1990, ENZYMES FATTY ACID O, P419

[5] ABNORMAL MITOCHONDRIA IN THE RETT SYNDROME [J].

EEGOLOFSSON, O ;

ALZUHAIR, AGH ;

TEEBI, AS ;

ALESSA, MMN .

BRAIN & DEVELOPMENT, 1988, 10 (04) :260-262

[6]

GREGERSEN N, 1991, HUM GENET, V86, P545

[7] A PROGRESSIVE SYNDROME OF AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE IN GIRLS - RETTS SYNDROME - REPORT OF 35 CASES [J].

HAGBERG, B ;

AICARDI, J ;

DIAS, K ;

RAMOS, O .

ANNALS OF NEUROLOGY, 1983, 14 (04) :471-479

[8]

HAGBERG B, 1992, BRAIN DEV-JPN, V14, pS151

[9] AN ACYL-COENZYME A DEHYDROGENASE ASSAY UTILIZING THE FERRICENIUM ION [J].

LEHMAN, TC ;

HALE, DE ;

BHALA, A ;

THORPE, C .

ANALYTICAL BIOCHEMISTRY, 1990, 186 (02) :280-284

[10] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - MOLECULAR ASPECTS [J].

MATSUBARA, Y ;

NARISAWA, K ;

TADA, K .

EUROPEAN JOURNAL OF PEDIATRICS, 1992, 151 (03) :154-159