IDENTIFICATION OF A COMMON MUTATION IN PATIENTS WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

被引：110

作者：

MATSUBARA, Y

NARISAWA, K

MIYABAYASHI, S

TADA, K

COATES, PM

BACHMANN, C

ELSAS, LJ

POLLITT, RJ

RHEAD, WJ

ROE, CR

机构：

[1] TOHOKU UNIV,SCH MED,DEPT PEDIAT,SENDAI,MIYAGI 980,JAPAN

[2] CHILDRENS HOSP PHILADELPHIA,DEPT PEDIAT,PHILADELPHIA,PA 19104

[3] CHU VAUDOIS,CENT CHIM CLIN LAB,CH-1011 LAUSANNE,SWITZERLAND

[4] EMORY UNIV,SCH MED,DEPT PEDIAT,ATLANTA,GA 30322

[5] CHILDRENS HOSP,SHEFFIELD S10 2TH,S YORKSHIRE,ENGLAND

[6] UNIV IOWA HOSP & CLIN,DEPT PEDIAT,IOWA CITY,IA 52242

[7] DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1990年 / 171卷 / 01期

关键词：

D O I：

10.1016/0006-291X(90)91421-N

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man. We have studied fibroblast cultures obtained from three patients with MCAD deficiency by sequencing the entire coding region of MCAD mRNA. A single A to G nucleotide replacement which resulted in lysine329-to-glutamic acid329 substitution of the MCAD protein was identified in all cultures. Furthermore, this point mutation was present in 91 % (31 of 34) of mutant MCAD alleles, indicating that the majority of cases with MCAD deficiency are caused by this type of mutation. © 1990.

引用

页码：498 / 505

页数：8

共 50 条

[41] IDENTIFICATION OF VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN 3 PATIENTS PREVIOUSLY DIAGNOSED WITH LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
YAMAGUCHI, S
INDO, Y
COATES, PM
HASHIMOTO, T
TANAKA, K
PEDIATRIC RESEARCH, 1993, 34 (01) : 111 - 113
[42] ASSAY OF ACYL-COA DEHYDROGENASES IN MUSCLE AND LIVER AND IDENTIFICATION OF 4 NEW CASES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH SYSTEMIC CARNITINE DEFICIENCY
ZIERZ, S
ENGEL, AG
ROMSHE, CA
MUSCLE & NERVE, 1986, 9 (05) : 193 - 193
[43] Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
Pourfarzam, M
Morris, A
Appleton, M
Craft, A
Bartlett, K
LANCET, 2001, 358 (9287): : 1063 - 1064
[44] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - A USEFUL DIAGNOSIS 5 YEARS AFTER DEATH
BENNETT, MJ
POLLITT, RJ
TAITZ, LS
VARIEND, S
CLINICAL CHEMISTRY, 1990, 36 (09) : 1695 - 1697
[45] Anesthesia in a child with medium-chain Acyl-CoA dehydrogenase deficiency
Justiz, Alina C.
Mayhew, James F.
PEDIATRIC ANESTHESIA, 2006, 16 (12) : 1293 - 1294
[46] Late presentation of medium-chain acyl-CoA dehydrogenase deficiency
Mayell, S. J.
Edwards, L.
Reynolds, F. E.
Chakrapani, A. B.
JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (01) : 104 - 104
[47] DNA ANALYSIS FOR DETECTION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN A MANITOBA NEWBORN POPULATION
THOMPSON, JR
MANCHUR, D
GREGORY, C
DILLING, L
LACSON, A
SEARGEANT, L
GREENBERG, CR
SCREENING, 1995, 4 (01): : 9 - 15
[48] ANALYSIS OF ABNORMAL URINARY METABOLITES IN THE NEWBORN PERIOD IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
BENNETT, MJ
COATES, PM
HALE, DE
MILLINGTON, DS
POLLITT, RJ
RINALDO, P
ROE, CR
TANAKA, K
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (05) : 707 - 715
[49] COMPARISON OF URINARY ACYLGLYCINES AND ACYLCARNITINES AS DIAGNOSTIC MARKERS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
RINALDO, P
OSHEA, JJ
GOODMAN, SI
MILLER, LV
FENNESSEY, PV
WHELAN, DT
HILL, RE
TANAKA, K
JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 : 325 - 328
[50] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN 2 SIBLINGS WITH A REYE-LIKE SYNDROME
BOUGNERES, PF
ROCCHICCIOLI, F
KOLVRAA, S
HADCHOUEL, M
LALAUKERALY, J
CHAUSSAIN, JL
WADMAN, SK
GREGERSEN, N
JOURNAL OF PEDIATRICS, 1985, 106 (06): : 918 - 921

← 1 2 3 4 5 →