3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.



Input patient's signs and symptoms


Narrow down the case reports



Total: 8 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 26190011
 Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, Blumkin L, Kivity S, Lerman-Sagie T, Zerem A.
Eur J Paediatr Neurol. 2015;19(6):733-6.
Optic atrophy Spasticity
c|SUB|G|143-1|C;RS#:80356523
Basal Ganglia Diseases Child, Preschool Chorea Electroencephalography Females Glutarates Homo sapiens Inborn Errors of Metabolism Jews Muscle Spasticity Optic Atrophy Proteins Psychomotor Agitation Seizures Sleep Spastic Paraplegia, Hereditary Status Epilepticus
1
(17.5%)		 18985435
 Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G, Walter JH, Christodoulou J.
J Inherit Metab Dis. 2008;31 Suppl 2:S419-23.
Optic atrophy Spasticity
OPA3
c|SUB|C|415|T;RS#:762180740|28937899 c|SUB|T|231|C;RS#:3826860 p|SUB|Q|139|X;RS#:762180740|28937899 rs28937899
Adolescent Development Biological Markers Chorea Codon, Nonsense DNA Mutational Analysis Females Genetic Predisposition to Disease Glutarates Heterozygote Homo sapiens Homozygote Inborn Errors of Metabolism Optic Atrophy Phenotype Proteins Spastic Paraplegia, Hereditary
1
(17.5%)		 16838891
 [Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor].
Fink N, Mouallem M.
Harefuah. 2006;145(6):402-3, 472.
Optic atrophy Spasticity
OPA3
Adult Females Homo sapiens Israel Proteins Single Nucleotide Polymorphism Temporomandibular Joint Dysfunction Syndrome
1
(17.5%)		 16527507
 Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E.
Mol Genet Metab. 2006;88(1):47-52.
Neonatal hypotonia
rs1131690799 rs1199625391 rs387907236 rs767780913 rs772296795
Brain Diseases, Metabolic Child Child, Preschool Fatal Outcome Females Glutarates Homo sapiens Infant, Newborn Leigh Disease Male Mitochondrial Diseases Oxidative Phosphorylation Syndrome Valerates
1
(17.5%)		 7510656
 3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
Elpeleg ON, Costeff H, Joseph A, Shental Y, Weitz R, Gibson KM.
Dev Med Child Neurol. 1994;36(2):167-72.
Optic atrophy Spasticity
Adult Child Child, Preschool Cognition Disorders Females Glutarates Homo sapiens Iraq Jews Male Meglutol Movement Disorders Optic Atrophy Syndrome
6
(4.0%)		 23700088
 A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nurnberg G, Thiele H, Nurnberg P, Jamil AZ, Bruggemann A, Abbas G, Klein C, Naz S, Lohmann K.
JAMA Neurol. 2013;70(6):783-7.
Optic atrophy
OPA3 TSHZ3
c|SUB|T|32|A p|SUB|A|314|G;RS#:528782093 p|SUB|L|11|Q
Child Chorea Dystonia Exome Females Genome-Wide Association Study Homo sapiens Inborn Errors of Metabolism Male Missense Mutation Optic Atrophy Phenotype Proteins Sequence Analysis, DNA Spastic Paraplegia, Hereditary
6
(4.0%)		 16969871
 A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.
Katz BJ, Zhao Y, Warner JE, Tong Z, Yang Z, Zhang K.
Am J Med Genet A. 2006;140(20):2207-11.
Glaucoma
OPA2
Chromosomes, Human, X Females Genetic Diseases, X-Linked Genetic Markers Homo sapiens Male Optic Atrophy 1 Tandem Repeat Sequences
6
(4.0%)		 7726378
 3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.
al Aqeel A, Rashed M, Ozand PT, Brismar J, Gascon GG, al Odaib A, Dabbagh O.
Brain Dev. 1994;16 Suppl:23-32.
Blindness
Acidosis Basal Ganglia Diseases Child, Preschool Females Glutarates Homo sapiens Inborn Errors of Metabolism Infant Male Phenotype ubidecarenone
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000505 Visual impairment Very frequent (99-80%)
HP:0001266 Choreoathetosis Very frequent (99-80%)
HP:0003535 3-Methylglutaconic aciduria Very frequent (99-80%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0002313 Spastic paraparesis Frequent (79-30%)
HP:0001288 Gait disturbance Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000648 Optic atrophy 5
HP:0001251 Ataxia 2
HP:0001257 Spasticity 2
HP:0001138 Optic neuropathy 1
HP:0001266 Choreoathetosis 1
HP:0002133 Status epilepticus 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
MICOS13 mitochondrial contact site and cristae organizing system subunit 13 125988
OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 80207