ORPHA:42
Medium chain acyl-CoA dehydrogenase deficiency
Synonyms: ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency · MCAD deficiency · MCADD · Medium chain acyl-coenzyme A dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Medium chain acyl-CoA dehydrogenase deficiency | ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency · MCAD deficiency · MCADD · Medium chain acyl-coenzyme A dehydrogenase deficiency |
| fr | Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne | Déficit en MCAD · Déficit en acyl-coenzymeA déshydrogénase des acides gras à chaîne moyenne · Déficit en carnitine par déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne · MCADD |
| de | Mittelketten-Acyl-CoA-Dehydrogenase-Mangel | ACADM-Mangel · MCAD-Mangel · MCADD · Sekundärer Carnitin-Mangel durch Mittelketten-Acyl-CoA-Dehydrogenase-Mangel |
| es | Deficiencia de acil-CoA deshidrogenasa de cadena media | Deficiencia de ACADM · Deficiencia de MCAD · Deficiencia de acil-coenzima A deshidrogenasa de cadena media · Deficiencia de carnitina secundaria a una deficiencia de acil-CoA deshidrogenasa de cadena media · MCADD |
| it | Deficit di acil-CoA deidrogenasi a catena media | Deficit di ACADM · Deficit di MCAD · Deficit di carnitina secondario a deficit di acil-CoA deidrogenasi a catena media · MCADD |
| nl | Middellange keten acyl-CoA-dehydrogenasedeficiëntie | Carnitinedeficiëntie secundair aan middellange keten acyl-CoA-dehydrogenasedeficiëntie · MCAD-deficiëntie · MCADD · Middellange keten acyl-co-enzym A-dehydrogenasedeficiëntie · ACADM-deficiëntie |
| pt | Deficiência de acil-CoA desidrogenase de cadeias médias | Deficiência de MCAD |
| pl | Niedobór dehydrogenazy średnich łańcuchów acetylo-CoA | MCADD · Niedobór MCAD · Niedobór ACADM · Niedobór dehydrogenazy średnich łańcuchów acetylo-koenzymu A · Niedobór karnityny wtórny do niedoboru dehydrogenazy średnich łańcuchów acetylo-CoA |
| cs | Deficit dehydrogenázy acyl-CoA se středně dlouhým řetězcem | Deficit ACADM · Sekundární deficit karnitinu zpusobený deficitem dehydrogenázy acyl-CoA se stredne dlouhým retezcem · Deficit MCAD · MCADD · Sekundární deficit karnitinu způsobený deficitem dehydrogenázy acyl-CoA se středně dlouhým řetězcem |
| uk | Дефіцит ацил-КоА-дегідрогенази середнього ланцюга | Дефіцит ACADM · Дефіцит карнітину внаслідок дефіциту ацил-КоА-дегідрогенази середнього ланцюга · Дефіцит MCAD · MCADD · Дефіцит ацил-коферменту А дегідрогенази середнього ланцюга |
| zh | 中链酰基辅酶A脱氢酶缺乏 | 中链酰基辅酶a脱氢酶缺乏继发的肉碱缺乏 |
| tr | Orta zincirli açil-CoA dehidrojenaz eksikliği | MCADD · MCAD eksikliği · ACADM eksikliği · Orta zincirli açil-koenzim A dehidrojenaz eksikliği · Orta zincirli açil-CoA dehidrogenaz eksikliğine sekonder karnitin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201450 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0008721 | E | validated | |
| MeSH | C536038 | E | validated | |
| UMLS | C0220710 | E | validated | |
| GARD | 540 | E | validated | |
| MedDRA | 10072654 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309120Acyl-CoA dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACADM | Disease-causing germline mutation(s) in | Assessed | HGNC:89 | ENSG00000117054 | 607008 | 1p31.1 | acyl-CoA dehydrogenase medium chain | 20301597[PMID] |
5
Prevalence and incidence
19 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 12 / 100 000 | Europe | Value and class | Validated | Haute Autorité de Santé 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.1 / 100 000 | Germany | Value and class | Not yet validated | 11388605[PMID]_15832312[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.25 / 100 000 | United Kingdom | Value and class | Not yet validated | 22166308[PMID]_9797590[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8.5 / 100 000 | Portugal | Value and class | Validated | 23842438[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Spain | Value and class | Not yet validated | 23842438[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.49 / 100 000 | Netherlands | Value and class | Validated | 22630369[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.3 / 100 000 | Canada | Value and class | Validated | 23543005[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.26 / 100 000 | Australia | Value and class | Validated | 19620191[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.96 / 100 000 | Japan | Value and class | Validated | 12127323[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Taiwan, Province of China | Value and class | Validated | 23700290[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.1 / 100 000 | Denmark | Value and class | Validated | 22542437[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.3 / 100 000 | Greece | Value and class | Validated | 22683754[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.85 / 100 000 | United States | Value and class | Not yet validated | 12142359[PMID]_16617240[PMID]_ ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6.85 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_16763904[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.02 / 100 000 | Austria | Value and class | Validated | 20938748[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.35 / 100 000 | Italy | Value and class | Validated | 24294134[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 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.
6
HPO phenotypes
37 annotations · validated 2019-08-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001410 | Decreased liver function | |
| HP:0011936 | Decreased plasma total carnitine | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0003473 | Fatigable weakness | |
| HP:0030199 | Fatigable weakness of neck muscles | |
| HP:0002240 | Hepatomegaly | |
| HP:0001987 | Hyperammonemia | |
| HP:0001252 | Hypotonia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0011675 | Arrhythmia | |
| HP:0001251 | Ataxia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0004326 | Cachexia | |
| HP:0001640 | Cardiomegaly | |
| HP:0001259 | Coma | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002014 | Diarrhea | |
| HP:0005684 | Distal arthrogryposis | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0040155 | Elevated urinary 3-hydroxybutyric acid | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001943 | Hypoglycemia | |
| HP:0001946 | Ketosis | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0000256 | Macrocephaly | |
| HP:0003394 | Muscle spasm | |
| HP:0003198 | Myopathy | |
| HP:0003202 | Skeletal muscle atrophy | |
Annotation source: 27536022[PMID]_28927828[PMID]_29350094[PMID]_31033143[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/42
- This record as JSON: /data/d/42.json