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3-Methylglutaconic Aciduria

Known as: 3-@METHYLGLUTACONIC ACIDURIA, 3mga (3-Methylglutaconic Aciduria) 
A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in… 
National Institutes of Health

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Narrower (1)

3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROMEMTTL1, 3243A-GPearson's marrow-pancreas syndrome

Broader (1)

Inborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
HTRA2 Defect: a Recognizable Inborn Error of Metabolism
2016
2016
A Rare Homozygous Deletion Mutation of TMEM70 Gene Associated with 3-Methylglutaconic Aciduria and Cataract in A Saudi Patient
For the past, several years, the number of the patient’s with nuclear genetic defects of the mitochondrial ATP synthase has been… 
2013
2013
Late optic neuropathy in propionic acidemia following surgical intervention.
T raber et al (1) recently reported a case of “Subacute bilateral visual loss in methylmalonic acidemia” in a 23-year-old woman… 
2013
2013
The 3-methylglutaconic acidurias revisited
2010
2010
Neuro-ophthalmological syndrome 3-methylglutaconic aciduria : a molecular and functional study of the B6; C3-Opa3L122P mouse model
Introduction: OPA3 is the causative gene of the autosomal recessive, multi-systemic neuro- ophthalmological syndrome, 3… 
1997
1997
Corrected QT Interval: Reference to QT Interval as a Centile of Normal Range
Review
1994
Review
1994
Dilated cardiomyopathy with 3-methylglutaconic aciduria
SummaryThe case of an infant with both dilated cardiomyopathy and 3-methylglutaconic aciduria is presented. The literature on… 
1993
1993
3-Methylglutaconic aciduria in a patient with Pearson syndrome
mographic differences [3]. We evaluated the prevalence of H. priori infection in children belonging to different ethnic… 
1992
1992
3-methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism
Sir: Three types of 3-methylglutaconic aciduria (McKusick 25095) can be distinguished [2]: 1. Patients with a massive excretion… 
1987
1987
[Hypertrophic cardiomyopathy and neonatal encephalopathy associated with 3-methylglutaconic aciduria].