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

Bizjak, Neli (avtor), Žerjav-Tanšek, Mojca (avtor), Avbelj Stefanija, Magdalena (avtor), Repič-Lampret, Barbka (avtor), Mezek, Ajda (avtor), Drole Torkar, Ana (avtor), Battelino, Tadej (avtor), Grošelj, Urh (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: 3-MGA-I, 3-methylglutaconic aciduria type 1, precocious puberty, AUH gene, GnRH agonist, triptorelin
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.03 - Kratki znanstveni prispevek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2020
• Št. strani: 4 str.
• Številčenje: Vol. 25, art. 100691
• PID: 20.500.12556/RUL-138435
• UDK: 616-053.2
• ISSN pri članku: 2214-4269
• DOI: 10.1016/j.ymgmr.2020.100691
• COBISS.SI-ID: 42454275
• Datum objave v RUL: 20.07.2022

Gradivo je del revije

• Naslov: Molecular genetics and metabolism reports
• Založnik: Elsevier
• ISSN: 2214-4269
• COBISS.SI-ID: 520387097

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih