20.500.12556/RUL-138435 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. 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. 3-MGA-I 3-methylglutaconic aciduria type 1 precocious puberty AUH gene GnRH agonist triptorelin true false true Angleški jezik Ni določen Članek v reviji 2022-07-20 14:00:43 2022-07-20 14:00:44 2022-09-15 04:16:45 0000-00-00 00:00:00 2020 0 0 4 str. Vol. 25, art. 100691 Dec. 2020 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2 2214-4269 10.1016/j.ymgmr.2020.100691 42454275 1-s2.0-S2214426920301373-main.pdf 1-s2.0-S2214426920301373-main.pdf 1 0ADFBEAD5C1DDC660C5143937303EF87 fa2b3ec8d301e005012b6d2a7705dabd25544099bd06c757dd90a0be0b4f1ff6 c4e59a6e-0824-11ed-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=158763 https://www.sciencedirect.com/science/article/pii/S2214426920301373 1 5652a323-0823-11ed-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=158762 Medicinska fakulteta 0 0 0