ORPHA:26793
Very long chain acyl-CoA dehydrogenase deficiency
Synonyms: VLCAD deficiency · VLCADD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Very long chain acyl-CoA dehydrogenase deficiency | VLCAD deficiency · VLCADD |
| fr | Déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue | Déficit en VLCAD · VLCADD |
| de | Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel | Acyl-CoA-Dehydrogenase-Mangel, sehr langkettige · VLCADD |
| es | Deficiencia de acil-CoA deshidrogenasa de cadena muy larga | Deficiencia de VLCAD · VLCADD |
| it | Deficit di acil-CoA deidrogenasi a catena molto lunga | Deficit di VLCAD · VLCADD |
| nl | Zeer lange keten acyl-CoA-dehydrogenasedeficiëntie | VLCAD-deficiëntie · VLCADD |
| pt | Deficiência de acil-CoA desidrogenase de cadeias muito longas | Deficiência de VLCAD |
| pl | Niedobór dehydrogenazy bardzo długiego łańcucha acetylo-CoA | Niedobór VLCAD · VLCADD |
| cs | Deficit acyl-CoA dehydrogenázy s velmi dlouhým řetězcem | Deficit VLCAD · VLCADD |
| uk | Дефіцит ацил-КоА-дегідрогенази з дуже довгим ланцюгом | Дефіцит VLCAD · VLCADD |
| zh | 极长链酰基辅酶A脱氢酶缺乏症 | VLCAD 缺乏症 |
| tr | Çok uzun zincirli açil-CoA dehidrojenaz eksikliği | VLCADD · VLCAD eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201475 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0008723 | E | validated | |
| MeSH | C536353 | E | validated | |
| UMLS | C3887523 | E | validated | |
| GARD | 5508 | E | validated | |
| MedDRA | 10072656 | 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 (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
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99900Long chain acyl-CoA dehydrogenase deficiency moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACADVL | Disease-causing germline mutation(s) in | Assessed | HGNC:92 | ENSG00000072778 | 609575 | 17p13.1 | acyl-CoA dehydrogenase very long chain | 20301763[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Australia | Value and class | Validated | 16488171[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.8 / 100 000 | United States | Value and class | Validated | 22766612[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Germany | Value and class | Validated | 20547398[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.3 / 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
40 annotations · validated 2019-08-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030781 | Increased circulating free fatty acid level | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002876 | Episodic tachypnea | |
| HP:0009045 | Exercise-induced rhabdomyolysis | |
| HP:0011968 | Feeding difficulties | |
| HP:0002240 | Hepatomegaly | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0002045 | Hypothermia | |
| HP:0000952 | Jaundice | |
| HP:0025502 | Overweight | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002098 | Respiratory distress | |
| HP:0001518 | Small for gestational age | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0001545 | Anteriorly placed anus | |
| HP:0011675 | Arrhythmia | |
| HP:0001678 | Atrioventricular block | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0008947 | Floppy infant | |
| HP:0001987 | Hyperammonemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0001254 | Lethargy | |
| HP:0000256 | Macrocephaly | |
| HP:0001942 | Metabolic acidosis | |
| HP:0003394 | Muscle spasm | |
| HP:0001513 | Obesity | |
| HP:0012531 | Pain | |
| HP:0001698 | Pericardial effusion | |
| HP:0002090 | Pneumonia | |
| HP:0001657 | Prolonged QT interval | |
| HP:0001649 | Tachycardia | |
| HP:0002789 | Tachypnea | |
| HP:0001663 | Ventricular fibrillation | |
| HP:0004756 | Ventricular tachycardia | |
| HP:0002013 | Vomiting | |
Annotation source: 31031081[PMID]_20301763[PMID]_27246109[PMID]_27209629[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/26793
- This record as JSON: /data/d/26793.json