A Case of Glutaric Aciduria Type I with a Novel Mutation

被引：0

作者：

Unal, Nilgun Uyduran ^{[1
]}

Kor, Deniz ^{[1
]}

Yucel, Didem ^{[2
]}

Mert, Gulen Gul ^{[1
]}

Mungan, Neslihan Onenli ^{[1
]}

机构：

[1] Cukurova Univ, Tip Fak, Cocuk Sagligi & Hastaliklari Ana Bili Dali, TR-01330 Adana, Turkey

[2] Hacettepe Univ, Tip Fak, Cocuk Metab & Beslenme Bilim Dali, Ankara, Turkey

来源：

CUKUROVA MEDICAL JOURNAL | 2013年 / 38卷 / 04期

关键词：

Glutaric aciduria type I; Glutaril CoA dehydrogenase;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common mutation in the population is C1240T. Clinical symptoms included neurological regression complications such as loss of sucking and swallowing reflexes choreoathetosis, seizures, rigidity and opisthotonos. In treatment high-carbohydrate, low-protein diet and carnitine is given. We would like to report this interesting case in order to present a new mutation for glutaric aciduria type I.

引用

页码：809 / 812

页数：4

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