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Page 1
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. ...Treatment is supportive, a …
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomoto …
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8. J Inherit Metab Dis. 2013. PMID: 23296368 Review.
There is, however, a group of disorders with significantly and consistently increased 3-methylglutaconic acid excretion, where the 3-methylglutaconic aciduria is a hallmark of the phenotype and the key to diagnosis. ...Therefore, we propose the followi …
There is, however, a group of disorders with significantly and consistently increased 3-methylglutaconic acid excretion, where the …
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Nardecchia F, Caciotti A, Giovanniello T, De Leo S, Ferri L, Galosi S, Santagata S, Torres B, Bernardini L, Carducci C, Morrone A, Leuzzi V. Nardecchia F, et al. Int J Mol Sci. 2022 Apr 16;23(8):4422. doi: 10.3390/ijms23084422. Int J Mol Sci. 2022. PMID: 35457240 Free PMC article. Review.
3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the AUH gene, which encodes 3-methylglutaconyl-coenzyme A hydratase (MGH). ...A next-generation sequencing (NGS) pa …
3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by patho …
3-Methylglutaconic aciduria type VIII in an Indian neonate.
Sreedhara MS, Balakrishnan U, Amboiram P, Chandrasekeran A, Abiramalatha T, Mohammad SJS, Rajendran UD, Jeyaraman TK. Sreedhara MS, et al. Birth Defects Res. 2020 Aug;112(14):1093-1097. doi: 10.1002/bdr2.1717. Epub 2020 May 22. Birth Defects Res. 2020. PMID: 32445293 Review.
Semi-quantitative analysis of urine showed borderline elevation of 3-methylglutaconic acid. Diagnosis of 3-methylglutaconic aciduria (3MGA) type VIII was suggested by whole-exome sequencing, which revealed a homozygous, likely pathogenic, missen …
Semi-quantitative analysis of urine showed borderline elevation of 3-methylglutaconic acid. Diagnosis of 3-methylglutaconic …
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
Zapolnik P, Sykut-Cegielska J, Pyrkosz A. Zapolnik P, et al. Acta Biochim Pol. 2020 Jun 8;67(2):263-266. doi: 10.18388/abp.2020_5355. Acta Biochim Pol. 2020. PMID: 32511901 Free article. Review.
3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. ...On the basis of the clinical picture and the results of biochemical and genetic tests 3-methylglutaconic aciduria type IV with duplicatio …
3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. ...On the basis of the clini …
The 3-methylglutaconic acidurias: what's new?
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. Wortmann SB, et al. J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. J Inherit Metab Dis. 2012. PMID: 20882351 Free PMC article. Review.
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recog …
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of …
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.
Tavasoli AR, Shervin Badv R, Zschocke J, Ashrafi MR, Rostami P. Tavasoli AR, et al. Brain Dev. 2017 Sep;39(8):714-716. doi: 10.1016/j.braindev.2017.04.007. Epub 2017 Apr 21. Brain Dev. 2017. PMID: 28438368 Review.
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be d …
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic …
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).
Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. Barth PG, et al. J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. J Inherit Metab Dis. 1999. PMID: 10407787 Review.
X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3-methylglutaconic acid-uria type II, endocardial fibroelastosis type 2) has been reported in patients and families from Europe, North America and …
X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3-methylglutaconic ac …
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G, Walter JH, Christodoulou J. Ho G, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S419-23. doi: 10.1007/s10545-008-0981-z. Epub 2008 Nov 7. J Inherit Metab Dis. 2008. PMID: 18985435 Review.
3-Methylglutaconic aciduria (MGA) encompasses a heterogeneous group of disorders, often coinciding with elevated levels of urinary 3-methylglutaric acid. ...MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 …
3-Methylglutaconic aciduria (MGA) encompasses a heterogeneous group of disorders, often coinciding with elevated levels …
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