Details of Disease | DrugMAP

General Information of Disease (ID: DIS57FI7)

Disease Name	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Synonyms	mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive; mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related; mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); mitochondrial encephalomyopathy aminoacidopathy; MTDPS5; encephalomyopathy; booth-Haworth-Dilling syndrome; mitochondrial DNA depletion syndrome 5; mitochondrial DNA depletion syndrome type 5; mitochondrial encephalomyopathy-aminoacidopathy syndrome; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Definition	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS4R581: Mitochondrial DNA depletion syndrome, encephalomyopathic form DIS57FI7: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Disease Identifiers	MONDO ID MONDO_0012791 UMLS CUI C2749864 OMIM ID 612073 MedGen ID 413170 Orphanet ID 1933 SNOMED CT ID 1197052008

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
TYMP	TTO0IB8	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUCLA2	OTMZD4PW	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Rhabdomyolysis: a genetic perspective.Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3.
2	Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6):1081-6. doi: 10.1086/430843. Epub 2005 Apr 22.