文章基本信息

标题：Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
本地全文：下载
作者：Neli Bizjak ; Mojca Zerjav Tansek ; Magdalena Avbelj Stefanija 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：25
页码：1-4
DOI：10.1016/j.ymgmr.2020.100691
出版社：Elsevier B.V.
摘要：3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previously reported, caused by a spectrum of 10 mutations. The clinical spectrum of 3-MGA-I in children is heterogeneous, varying from asymptomatic individuals to mild neurological impairment, speech delay, quadriplegia, dystonia, choreoathetoid movements, severe encephalopathy, psychomotor retardation, basal ganglia involvement. Early dietary treatment with leucine restriction and carnitine supplementation may be effective in improving neurological state in pediatric patients with 3-MGA-I. We presented a girl with 3-MGA-I due to novel AUH gene mutation (homozygous variant c.330 + 5G > A) and confirmed by almost undetectable 3-MGH-enzyme activity, who initially presented with central precocious puberty at an early age of 4.5 years. Precocious puberty might be associated with the 3-MGA-I, as is reported previously in some other metabolic disorders that result in pathologic accumulation of metabolites or toxic brain damage. Therapy with GnRH agonist triptorelin effectively arrested pubertal development.
关键词：3-MGA-I ; 3-methylglutaconic aciduria type 1 ; Precocious puberty ; AUH gene ; GnRH agonist ; Triptorelin ; 3-HIVA 3-hydroxyisovaleric acid ; 3-MGA-I 3-methylglutaconic aciduria type I ; 3-MG 3-methylglutaric acid ; 3-MGH 3-methylglutaconyl-CoA hydratase ; C5-OH 3-hydroxyisovaleryl-carnitine ; GnRH Gonadotropin-releasing hormone ; IEM inborn errors of metabolism ; LC-MS/MS Tandem mass spectrometry ; LH luteinizing hormone ; MRI Magnetic resonance imaging ; NBS newborn screening ; ToL The Tower of London test ; UCHL University Children's Hospital Ljubljana