布朗-维阿莱托-范莱尔综合征和法齐奥-隆德综合征：核黄素转运缺陷，在生化方面与多种酰基辅酶A脱氢酶缺乏症（MADD）相似。 - Suppr

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Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).

作者信息

Bennett Michael J

出版信息

J Inherit Metab Dis. 2012 Nov;35(6):941-2. doi: 10.1007/s10545-012-9519-5. Epub 2012 Sep 14.

DOI:10.1007/s10545-012-9519-5

PMID:22976761

Abstract

摘要

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本文引用的文献

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

Dev Med Child Neurol. 2012 Feb;54(2):187-9. doi: 10.1111/j.1469-8749.2011.04142.x. Epub 2011 Nov 18.

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26.

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

Hum Mutat. 2011 Jan;32(1):E1976-84. doi: 10.1002/humu.21399.

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

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Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.

Brain Dev. 2005 Sep;27(6):443-6. doi: 10.1016/j.braindev.2004.10.003. Epub 2004 Dec 15.

C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.

Pediatr Res. 1982 Oct;16(10):861-8. doi: 10.1203/00006450-198210000-00012.

Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.

Neurology. 1986 Mar;36(3):367-72. doi: 10.1212/wnl.36.3.367.

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

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Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.

Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510.

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