ORPHA:394532

Multiple acyl-CoA dehydrogenase deficiency, mild type

Synonyms: Glutaric aciduria type 2, mild type · MAD deficiency, mild type · MADD, mild type

This disease is described under Multiple acyl-CoA dehydrogenase deficiency

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Multiple acyl-CoA dehydrogenase deficiency, mild type	Glutaric aciduria type 2, mild type · MAD deficiency, mild type · MADD, mild type
fr	Déficit multiple en acyl-CoA déshydrogénase, type modéré	Acidémie glutarique type 2, type modéré · Déficit en MAD, type modéré
de	Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ
es	Deficiencia múltiple de acil-CoA deshidrogenasa tipo leve	Aciduria glutárica tipo 2, tipo leve · Deficiencia de MAD tipo leve · MADD tipo leve
it	Deficit multiplo di acil-CoA deidrogenasi, tipo lieve
nl	Meervoudige acyl-CoA-dehydrogenatiedeficiëntie, mild type
pt	Deficiência de acil-CoA desidrogenase múltipla, tipo ligeiro	Acidúria glutárica tipo 2, tipo ligeiro · Deficiência de MAD, tipo ligeiro · MADD, tipo ligeiro
pl	Złożony Niedobór dehydrogenacji acetylo-CoA, typ łagodny	= en
cs	Deficit dehydrogenace mnohočetných acyl-CoA, mírný typ	= en
uk	Множинна недостатність ацил-КоА-дегідрогенази, легкий тип	Глутарова ацидурія 2 типу, легка форма · Дефіцит MAD, легкий тип · MADD, легкий тип
zh	轻型多重酰基辅酶A脱氢酶缺乏症	轻型戊二酸尿症2型
tr	Çoklu açil-KoA dehidrojenaz eksikliği, hafif tip	MADD, hafif tip · MAD eksikliği, hafif tip · Glutarik asidüri tip 2, hafif tip

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	231680	NTBT		validated
OMIM	255100	NTBT		validated
ICD-10	E71.3	NTBT	attributed	validated
ICD-11	5C52.01	NTBT	attributed	validated
MONDO	0018333	E		validated
UMLS	C5680028	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:26791Multiple acyl-CoA dehydrogenase deficiency
rare cardiac diseases; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders

No children.

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FLAD1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24671	ENSG00000160688	610595	1q21.3	flavin adenine dinucleotide synthetase 1	28433476[PMID]
ETFA	Disease-causing germline mutation(s) in	Assessed	HGNC:3481	ENSG00000140374	608053	15q24.2-q24.3	electron transfer flavoprotein subunit alpha
ETFB	Disease-causing germline mutation(s) in	Assessed	HGNC:3482	ENSG00000105379	130410	19q13.41	electron transfer flavoprotein subunit beta
ETFDH	Disease-causing germline mutation(s) in	Assessed	HGNC:3483	ENSG00000171503	231675	4q32.1	electron transfer flavoprotein dehydrogenase
SLC25A32	Disease-causing germline mutation(s) in	Assessed	HGNC:29683	ENSG00000164933	138480	8q22.3	solute carrier family 25 member 32	28443623[PMID]_26933868[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.