Details of Disease | DrugMAP

General Information of Disease (ID: DISKAAPW)

Disease Name	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Synonyms	3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome; 3-MGCA type IV (formerly); 3-methylglutaconic aciduria type VI; SERAC1 defect; 3-Methylglutaconic aciduria, type 6; 3-MGCA-4 (formerly); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; SERAC1 3-methylglutaconic aciduria; 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome; 3-methylglutaconic aciduria type 6; MEGDEL syndrome; 3-methylglutaconic aciduria caused by mutation in SERAC1; MGCA6; MEGDEL
Definition	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.\|Present because it is in the OMIM series.
Disease Hierarchy	DISP5E0H: Inborn mitochondrial metabolism disorder DIS8G1WP: 3-methylglutaconic aciduria DIS2ID07: SERAC1-related neurological disorder DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISKAAPW: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Disease Identifiers	MONDO ID MONDO_0013875 UMLS CUI C4040739 OMIM ID 614739 MedGen ID 873604 Orphanet ID 352328 SNOMED CT ID 711409002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGK	TTJETQC	moderate	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OPA3	OT6NDC1M	Strong	Genetic Variation	[2]
SERAC1	OTWH1ULQ	Definitive	Autosomal recessive	[3]
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References

1	Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub 2015 Jan 18.
2	Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8.
3	Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. Eur J Med Genet. 2018 Feb;61(2):100-103. doi: 10.1016/j.ejmg.2017.07.013. Epub 2017 Aug 1.