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Literature DB >> 16435213

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.

H M Engbers¹, L Dorland, M G M de Sain, P F Eskes, G Visser.

Abstract

A patient with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency presented in the neonatal period with hypoketotic hypoglycaemia and at the age of 1 year with rhabdomyolysis and normal glucose after fasting. Rhabdomyolysis may occur in the absence of hypoglycaemia in young infants as well as in older patients.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 2005 PMID： 16435213 DOI： 10.1007/s10545-005-0190-y

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

2 in total

1. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

Authors: C Vianey-Saban; P Divry; M Brivet; M Nada; M T Zabot; M Mathieu; C Roe
Journal: Clin Chim Acta Date: 1998-01-12 Impact factor: 3.786

2. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.

Authors: Charles R Roe; Lawrence Sweetman; Diane S Roe; France David; Henri Brunengraber
Journal: J Clin Invest Date: 2002-07 Impact factor: 14.808

2 in total

8 in total

1. Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Authors: Kenji Iwata; Kumiko Tanabe; Yoko Sugiyama; Midori Tanaka; Motoyasu Takenaka; Hiroki Iida
Journal: J Anesth Date: 2012-07-31 Impact factor: 2.078

2. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

Authors: Margarita Tenopoulou; Jie Chen; Jean Bastin; Michael J Bennett; Harry Ischiropoulos; Paschalis-Thomas Doulias
Journal: J Biol Chem Date: 2015-03-03 Impact factor: 5.157

3. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

Authors: S Gobin-Limballe; F Djouadi; F Aubey; S Olpin; B S Andresen; S Yamaguchi; H Mandel; T Fukao; J P N Ruiter; R J A Wanders; R McAndrew; J J Kim; J Bastin
Journal: Am J Hum Genet Date: 2007-10-29 Impact factor: 11.025

Review 4. Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids.

Authors: Alexandre Umpierrez Amaral; Moacir Wajner
Journal: Front Genet Date: 2020-11-27 Impact factor: 4.599

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.

1. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

2. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.

1. Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

2. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

3. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

Review 4. Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids.

5. Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).

Review 6. Hypoglycaemia related to inherited metabolic diseases in adults.

7. Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Review 8. Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.