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Quoted phrase not found in phrase index: "3-methylglutaconic aciduria type 9"
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Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Sarig O, et al. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918762
3-Methylglutaconic aciduria (3-MGCA) type IV is defined as a heterogeneous group of inborn errors featuring in common 3-MGCA and associated with primary mitochondrial dysfunction leading to a spectrum of multisystem conditions. ...
3-Methylglutaconic aciduria (3-MGCA) type IV is defined as a heterogeneous group of inborn errors featuring in c …
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
Mercimek-Mahmutoglu S, Tucker T, Casey B. Mercimek-Mahmutoglu S, et al. Mol Genet Metab. 2011 Nov;104(3):410-3. doi: 10.1016/j.ymgme.2011.07.021. Epub 2011 Jul 26. Mol Genet Metab. 2011. PMID: 21840233
We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9 …
We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case w …
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').
Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR. Chitayat D, et al. J Inherit Metab Dis. 1992;15(2):204-12. doi: 10.1007/BF01799632. J Inherit Metab Dis. 1992. PMID: 1382150
In the latter, 3-methylglutaconic aciduria may simply be a marker for another metabolic disorder. We describe a male proband with 3-methylglutaconic aciduria designated here as 'type 4' (autosomal recessive, with severe psychomotor …
In the latter, 3-methylglutaconic aciduria may simply be a marker for another metabolic disorder. We describe a male pr …
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Catteruccia M, et al. Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8. Mol Genet Metab. 2014. PMID: 24485043
INTRODUCTION: Mutations in the TMEM70 are the most common cause of nuclear ATP synthase deficiency resulting in a distinctive phenotype characterized by severe neonatal hypotonia, hypertrophic cardiomyopathy (HCMP), facial dysmorphism, severe lactic acidosis, hyperammonemia and …
INTRODUCTION: Mutations in the TMEM70 are the most common cause of nuclear ATP synthase deficiency resulting in a distinctive phenotype char …
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
Mack M, Schniegler-Mattox U, Peters V, Hoffmann GF, Liesert M, Buckel W, Zschocke J. Mack M, et al. FEBS J. 2006 May;273(9):2012-22. doi: 10.1111/j.1742-4658.2006.05218.x. FEBS J. 2006. PMID: 16640564 Free article.
The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is characterized by an abnormal organic acid profile in which there is excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid. ...The on …
The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is characterized by an abnormal organic acid pro …