Fatty acid oxidation defects in muscle

被引：22

作者：

Morris, AAM ^{[1
]}

Turnbull, DM ^{[1
]}

机构：

[1] Newcastle Univ, Dept Child Hlth & Neurol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

来源：

CURRENT OPINION IN NEUROLOGY | 1998年 / 11卷 / 05期

关键词：

D O I：

10.1097/00019052-199810000-00011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Fatty acid oxidation defects can cause recurrent rhabdomyolysis or chronic progressive muscle weakness. Diagnosis is often possible on blood using tandem mass spectrometry or molecular genetic techniques, Riboflavin and carnitine are effective in some cases of multiple acyl-CoA dehydrogenase deficiency and primary carnitine deficiency, respectively. Controlled trials are needed to evaluate other proposed forms of treatment. Curr Opin Neurol 11:485-490. (C) 1998 Lippincott Williams & Wilkins.

引用

页码：485 / 490

页数：6

共 50 条

[1] Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [J].

Andresen, BS ;

Bross, P ;

VianeySaban, C ;

Divry, P ;

Zabot, MT ;

Roe, CR ;

Nada, MA ;

Byskov, A ;

Kruse, TA ;

Neve, S ;

Kristiansen, K ;

Knudsen, I ;

Corydon, MJ ;

Gregersen, N .

HUMAN MOLECULAR GENETICS, 1996, 5 (04) :461-472

[2] LATE-ONSET RIBOFLAVIN-RESPONSIVE MYOPATHY WITH COMBINED MULTIPLE ACYL-COENZYME-A DEHYDROGENASE AND RESPIRATORY-CHAIN DEFICIENCY [J].

ANTOZZI, C ;

GARAVAGLIA, B ;

MORA, M ;

RIMOLDI, M ;

MORANDI, L ;

URSINO, E ;

DIDONATO, S .

NEUROLOGY, 1994, 44 (11) :2153-2158

[3] PURIFICATION OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND CHARACTERIZATION OF ITS DEFICIENCY IN 7 PATIENTS [J].

AOYAMA, T ;

SOURI, M ;

USHIKUBO, S ;

KAMIJO, T ;

YAMAGUCHI, S ;

KELLEY, RI ;

RHEAD, WJ ;

UETAKE, K ;

TANAKA, K ;

HASHIMOTO, T .

JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (06) :2465-2473

[4] Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis [J].

Baerlocher, KE ;

Steinmann, B ;

Aguzzi, A ;

Krahenbuhl, S ;

Roe, CR ;

VianeySaban, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (03) :427-431

[5]

Bonnefont JP, 1996, AM J HUM GENET, V58, P971

[6] Very long chain acyl-CoA dehydrogenase deficiency: Successful treatment of acute cardiomyopathy [J].

BrownHarrison, MC ;

Nada, MA ;

Sprecher, H ;

VianeySaban, C ;

Farquhar, J ;

Gilladoga, AC ;

Roe, CR .

BIOCHEMICAL AND MOLECULAR MEDICINE, 1996, 58 (01) :59-65

[7] GENETIC DEFICIENCY OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE IN CULTURED FIBROBLASTS FROM A PATIENT WITH MUSCLE CARNITINE DEFICIENCY AND SEVERE SKELETAL-MUSCLE WEAKNESS [J].

COATES, PM ;

HALE, DE ;

FINOCCHIARO, G ;

TANAKA, K ;

WINTER, SC .

JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (01) :171-175

[8]

DIONSIVICI C, 1995, PEDIATR RES, V37, pA147

[9] Mammalian mitochondrial beta-oxidation [J].

Eaton, S ;

Bartlett, K ;

Pourfarzam, M .

BIOCHEMICAL JOURNAL, 1996, 320 :345-357

[10] Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients:: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria [J].

Gregersen, N ;

Winter, VS ;

Corydon, MJ ;

Corydon, TJ ;

Rinaldo, P ;

Ribes, A ;

Martinez, G ;

Bennett, MJ ;

Vianey-Saban, C ;

Bhala, A ;

Hale, DE ;

Lehnert, W ;

Kmoch, S ;

Roig, M ;

Riudor, E ;

Eiberg, H ;

Andresen, BS ;

Bross, P ;

Bolund, LA ;

Kolvraa, S .

HUMAN MOLECULAR GENETICS, 1998, 7 (04) :619-627

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