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...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920301373 |
| _version_ | 1818393809205067776 |
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| author | Neli Bizjak Mojca Zerjav Tansek Magdalena Avbelj Stefanija Barbka Repic Lampret Ajda Mezek Ana Drole Torkar Tadej Battelino Urh Groselj |
| author_facet | Neli Bizjak Mojca Zerjav Tansek Magdalena Avbelj Stefanija Barbka Repic Lampret Ajda Mezek Ana Drole Torkar Tadej Battelino Urh Groselj |
| author_sort | Neli Bizjak |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T05:51:12Z |
| format | Article |
| id | doaj.art-5bda639214e8416889991c2ddf301f47 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-14T05:51:12Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-5bda639214e8416889991c2ddf301f472022-12-21T23:14:44ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-12-0125100691Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutationNeli Bizjak0Mojca Zerjav Tansek1Magdalena Avbelj Stefanija2Barbka Repic Lampret3Ajda Mezek4Ana Drole Torkar5Tadej Battelino6Urh Groselj7Department of Child, Adolescent and Developmental Neurology, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, SloveniaClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, SloveniaUnit for Clinical Dietetics, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia; Corresponding author at: Department of Endocrinology, Diabetes and Metabolism, University Children's Hospital Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.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.http://www.sciencedirect.com/science/article/pii/S22144269203013733-MGA-I3-methylglutaconic aciduria type 1Precocious pubertyAUH geneGnRH agonistTriptorelin |
| spellingShingle | Neli Bizjak Mojca Zerjav Tansek Magdalena Avbelj Stefanija Barbka Repic Lampret Ajda Mezek Ana Drole Torkar Tadej Battelino Urh Groselj Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation Molecular Genetics and Metabolism Reports 3-MGA-I 3-methylglutaconic aciduria type 1 Precocious puberty AUH gene GnRH agonist Triptorelin |
| title | Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation |
| title_full | Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation |
| title_fullStr | Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation |
| title_full_unstemmed | Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation |
| title_short | Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation |
| title_sort | precocious puberty in a girl with 3 methylglutaconic aciduria type 1 3 mga i due to a novel auh gene mutation |
| topic | 3-MGA-I 3-methylglutaconic aciduria type 1 Precocious puberty AUH gene GnRH agonist Triptorelin |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920301373 |
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