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

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

Bizjak, Neli; Zerjav Tansek, Mojca; Avbelj Stefanija, Magdalena; Repic Lampret, Barbka; Mezek, Ajda; Drole Torkar, Ana; Battelino, Tadej; Groselj, Urh.

Affiliation

Bizjak N; Department of Child, Adolescent and Developmental Neurology, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, Ljubljana, Slovenia.
Zerjav Tansek M; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
Avbelj Stefanija M; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Repic Lampret B; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
Mezek A; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Drole Torkar A; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
Battelino T; Unit for Clinical Dietetics, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
Groselj U; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.

Mol Genet Metab Rep ; 25: 100691, 2020 Dec.

Article in En | MEDLINE | ID: mdl-33304818

Key words

3-HIVA, 3-hydroxyisovaleric acid; 3-MG, 3-methylglutaric acid; 3-MGA-I; 3-MGA-I, 3-methylglutaconic aciduria type I; 3-MGH, 3-methylglutaconyl-CoA hydratase; 3-methylglutaconic aciduria type 1; AUH gene; C5-OH, 3-hydroxyisovaleryl-carnitine; GnRH agonist; 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; Precocious puberty; ToL, The Tower of London test; Triptorelin; UCHL, University Children's Hospital Ljubljana

Full text: 1 Database: MEDLINE Language: En Year: 2020 Type: Article

Full text: 1 Database: MEDLINE Language: En Year: 2020 Type: Article