Details of Disease

Disease Name

Multiple acyl-CoA dehydrogenase deficiency

ethylmalonic-Adipicaciduria; glutaric aciduria 2; glutaric acidemia 2; EMA; Ga 2; glutaric acidemia IIB; Etfb deficiency; glutaric acidemia 2B; Etfdh deficiency; glutaric acidemia IIA; glutaric acidemia IIC; Etfa deficiency; glutaric acidemia 2C; glutaric acidemia 2A; Glutaric Aciduria Type II; glutaric aciduria, type 2; glutaric acidemia type II; multiple acyl Coenzyme A dehydrogenase deficiency; glutaric aciduria type 2; multiple acyl-CoA dehydrogenase deficiency; MADD; MAD deficiency; electron transfer flavoprotein deficiency; glutaric acidemia type 2; electron transfer flavoprotein ubiquinone oxidoreductase deficiency

Definition

A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.|Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670).

Disease Hierarchy

DISP5E0H: Inborn mitochondrial metabolism disorder

DISU6BE1: Acyl-CoA dehydrogenase deficiency

DISGE8NR: Glutaric aciduria

DISQ89HN: Familial hypertrophic cardiomyopathy

DISEFBN7: Multiple acyl-CoA dehydrogenase deficiency

Disease Identifiers

MONDO ID

MONDO_0009282

MESH ID

D054069

UMLS CUI

C0268596

OMIM ID

231680

MedGen ID

75696

Orphanet ID

26791

SNOMED CT ID

22886006

General Information of Disease (ID: DISEFBN7)

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
CPT1B	TTDL0NY	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC52A3	DTBVQIO	Strong	Genetic Variation	[2]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYNGAP1	OT41HVYQ	Limited	Biomarker	[3]
TEAD2	OTM8YMYT	Limited	Biomarker	[4]
CPT2	OTIN6G20	Strong	Biomarker	[5]
FLAD1	OTY8R02L	Strong	Genetic Variation	[2]
MADD	OTUFYVGG	Strong	Genetic Variation	[6]
ETFA	OTXX61VZ	Definitive	Autosomal recessive	[7]
ETFB	OT6Q6FBD	Definitive	Autosomal recessive	[7]
ETFDH	OTOSKSFH	Definitive	Autosomal recessive	[7]
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⏷ Show the Full List of 8 DOT(s)

References

1	Follow-up of fatty acid -oxidation disorders in expanded newborn screening era.Eur J Pediatr. 2019 Mar;178(3):387-394. doi: 10.1007/s00431-018-03315-2. Epub 2019 Jan 7.
2	Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.Brain Dev. 2019 Aug;41(7):638-642. doi: 10.1016/j.braindev.2019.04.002. Epub 2019 Apr 11.
3	A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).Epilepsia. 2011 Dec;52(12):e190-3. doi: 10.1111/j.1528-1167.2011.03304.x. Epub 2011 Nov 2.
4	Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.Am J Hum Genet. 1991 Sep;49(3):575-80.
5	Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.J Hum Genet. 2019 Feb;64(2):73-85. doi: 10.1038/s10038-018-0527-7. Epub 2018 Nov 6.
6	A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.J Neurol Sci. 2018 Jan 15;384:121-125. doi: 10.1016/j.jns.2017.11.012. Epub 2017 Nov 15.
7	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.