A new case of malonyl-CoA decarboxylase deficiency with mild clinical features
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- 作者：Huan Liu ; Dongqiong Tan ; Lianshu Han ; Jun Ye ; Wenjuan Qiu ; Xuefan Gu and Huiwen Zhang
- 关键词：malonyl-CoA decarboxylase deficiency ; malonic aciduria ; mutation
- 刊名：American Journal of Medical Genetics Part A
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：170
- 期：5
- 页码：1347-1351
- 全文大小：470K
- ISSN：1552-4833
文摘
Malonyl-CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabolism. It usually follows a severe disease course and presents poor prognosis without treatment. Here, we report an affected female juvenile with a mild clinical and biochemical phenotype who mainly featured poor schooling without cardiomyopathy and metabolic acidosis. She was suspected of malonyl-CoA decarboxylase deficiency due to a 57-kb deletion in 16q23.3 encompassing the MLCYD gene revealed by chromosome microarray. Malonyl-CoA decarboxylase deficiency was then confirmed by acylcarnitine analysis and organic acid analysis. Real-time PCR analysis of the patient revealed the first three exon deletion of the MLYCD gene, which was maternally inherited. DNA sequencing of the MLYCD gene of the patient identified a novel heterozygous mutation (c.911G>A, p.G304E) in exon 4 that was paternally inherited. The patient urine malonic acid dissolved and had a better school record in 6 month after initiation of fat-limited diet. At 1 year post treatment, the blood malonylcarnitine level decreased remarkably. Our result expands the phenotype of malonyl-CoA decarboxylase deficiency and suggests attentions should be paid to the mild form of disorders, for example, malonyl-CoA decarboxylase deficiency, which usually present a severe disease course.