Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

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...

Full description

Bibliographic Details
Main Authors: Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
3-MGA-I
3-methylglutaconic aciduria type 1
Precocious puberty
AUH gene
GnRH agonist
Triptorelin
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301373

Internet

http://www.sciencedirect.com/science/article/pii/S2214426920301373

Similar Items