ORPHA:26791
Multiple acyl-CoA dehydrogenase deficiency
Synonyms: Glutaric acidemia type 2 · Glutaric aciduria type 2 · MAD deficiency · MADD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple acyl-CoA dehydrogenase deficiency | Glutaric acidemia type 2 · Glutaric aciduria type 2 · MAD deficiency · MADD |
| fr | Déficit multiple en acyl-CoA déshydrogénases | Acidurie glutarique type 2 · Acidémie glutarique type 2 · Déficit en MAD · MADD |
| de | Acyl-CoA-Dehydrogenase-Mangel, multipler | Glutarazidurie Typ 2 · Glutarazidämie Typ 2 · MAD-Mangel · MADD |
| es | Deficiencia múltiple de acil-CoA deshidrogenasa | Acidemia glutárica tipo 2 · Aciduria glutárica tipo 2 · Deficiencia de MAD · MADD |
| it | Deficit multiplo di acil-CoA deidrogenasi | Acidemia glutarica, tipo 2 · Aciduria glutarica, tipo 2 · Deficit di MAD · Deficit di flavoproteina trasportatrice di elettroni · Deficit di flavoproteina trasportatrice di elettroni ubichinone ossidoreduttasi · MADD |
| nl | Meervoudige acyl-CoA-dehydrogenasedeficiëntie | Glutaaracidemie type 2 · Glutaaracidurie type 2 · MAD-deficiëntie · MADD · Meervoudige acyl-CoA-dehydrogenasedeficiëntie |
| pt | Deficiência de desidrogenação de acil-CoA múltipla | Acidúria glutárica tipo 2 · Deficiência de flavoproteína de transferência de eletrões · Deficiência de flavoproteína de transferência de eletrões ubiquinona oxidorredutase |
| pl | Mnogi niedobór dehydrogenazy acetylo-CoA | MADD · Niedobór MAD · Kwasica glutarowa typu 2 · Acyduria glutarowa typu 2 |
| cs | Mnohonásobný deficit acyl-CoA dehydrogenázy | Glutarová acidemie, typ 2 · Glutarová acidurie, typ 2 · Deficit MAD · MADD · Deficit flavoproteinů přenášejících elektrony · Deficit flavoproteinů přenášejících elektrony v ubikvinonové oxidoreduktáze |
| uk | Множинний дефіцит ацил-КоА-дегідрогенази | Глутарова ацидемія 2 типу · Глутарова ацидурія 2 типу · Дефіцит MAD · MADD |
| zh | 多种酰基辅酶A脱氢酶缺乏症 | 戊二酸尿症2型 |
| tr | Çoklu açil-CoA dehidrojenaz eksikliği | MADD · MAD eksikliği · Glutarik asidemi tip 2 · Glutarik asidüri tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231680 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0009282 | E | validated | |
| MeSH | D054069 | E | validated | |
| UMLS | C0268596 | E | validated | |
| GARD | 6523 | E | validated | |
| MedDRA | 10090590 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309120Acyl-CoA dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217591Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 9 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FLAD1 | ORPHA:394529Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24671 | ENSG00000160688 | 610595 | 1q21.3 | flavin adenine dinucleotide synthetase 1 | 27259049[PMID] |
| FLAD1 | ORPHA:394532Multiple acyl-CoA dehydrogenase deficiency, mild type | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24671 | ENSG00000160688 | 610595 | 1q21.3 | flavin adenine dinucleotide synthetase 1 | 28433476[PMID] |
| ETFA | ORPHA:394529Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | Disease-causing germline mutation(s) in | Assessed | HGNC:3481 | ENSG00000140374 | 608053 | 15q24.2-q24.3 | electron transfer flavoprotein subunit alpha | |
| ETFA | ORPHA:394532Multiple acyl-CoA dehydrogenase deficiency, mild type | Disease-causing germline mutation(s) in | Assessed | HGNC:3481 | ENSG00000140374 | 608053 | 15q24.2-q24.3 | electron transfer flavoprotein subunit alpha | |
| ETFB | ORPHA:394529Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | Disease-causing germline mutation(s) in | Assessed | HGNC:3482 | ENSG00000105379 | 130410 | 19q13.41 | electron transfer flavoprotein subunit beta | |
| ETFB | ORPHA:394532Multiple acyl-CoA dehydrogenase deficiency, mild type | Disease-causing germline mutation(s) in | Assessed | HGNC:3482 | ENSG00000105379 | 130410 | 19q13.41 | electron transfer flavoprotein subunit beta | |
| ETFDH | ORPHA:394529Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | Disease-causing germline mutation(s) in | Assessed | HGNC:3483 | ENSG00000171503 | 231675 | 4q32.1 | electron transfer flavoprotein dehydrogenase | |
| ETFDH | ORPHA:394532Multiple acyl-CoA dehydrogenase deficiency, mild type | Disease-causing germline mutation(s) in | Assessed | HGNC:3483 | ENSG00000171503 | 231675 | 4q32.1 | electron transfer flavoprotein dehydrogenase | |
| SLC25A32 | ORPHA:394532Multiple acyl-CoA dehydrogenase deficiency, mild type | Disease-causing germline mutation(s) in | Assessed | HGNC:29683 | ENSG00000164933 | 138480 | 8q22.3 | solute carrier family 25 member 32 | 28443623[PMID]_26933868[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.47 / 100 000 | United States | Value and class | Not yet validated | ORPHANET_24190796[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
58 annotations · validated 2019-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0003326 | Myalgia | |
| HP:0003701 | Proximal muscle weakness | |
| Occasional (29-5%) | ||
| HP:0003344 | 3-Methylglutaric aciduria | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001284 | Areflexia | |
| HP:0001635 | Congestive heart failure | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0001410 | Decreased liver function | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0003219 | Ethylmalonic aciduria | |
| HP:0003546 | Exercise intolerance | |
| HP:0030199 | Fatigable weakness of neck muscles | |
| HP:0011968 | Feeding difficulties | |
| HP:0003150 | Glutaric aciduria | |
| HP:0002614 | Hepatic periportal necrosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0000348 | High forehead | |
| HP:0001987 | Hyperammonemia | |
| HP:0003307 | Hyperlordosis | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0003128 | Lactic acidosis | |
| HP:0003648 | Lacticaciduria | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000118 | Phenotypic abnormality | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000506 | Telecanthus | |
| HP:0002013 | Vomiting | |
| HP:0000260 | Wide anterior fontanel | |
| Very rare (<4-1%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0001735 | Acute pancreatitis | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0001298 | Encephalopathy | |
| HP:0002171 | Gliosis | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0002540 | Inability to walk | |
| HP:0000256 | Macrocephaly | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0002421 | Poor head control | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0006582 | Reye syndrome-like episodes | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0003691 | Scapular winging | |
Annotation source: 2658591[PMID]_19249206[PMID]_20370797[PMID]_26403312[PMID]_18289905[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/26791
- This record as JSON: /data/d/26791.json