Isobutyryl-CoA dehydrogenase deficiency
Synonyms: Isobutyric aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare organic aciduria characterized by isolated elevation of C4-acylcarnitine. Patient may be asymptomatic (notably during the early childhood) or may present with anemia, dilated cardiomyopathy, mild peripheral pulmonary stenosis, and carnitine deficiency. Mild developmental delay, speech delay, muscle hypotonia, emesis and dehydration have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isobutyryl-CoA dehydrogenase deficiency | Isobutyric aciduria |
| fr | Déficit en isobutyryl-CoA déshydrogénase | Acidurie isobutyrique |
| de | Isobutyryl-CoA-Dehydrogenasemangel | Isobutyrazidurie |
| es | Deficiencia de isobutiril-CoA-deshidrogenasa | Aciduria isobutírica |
| it | Deficit di isobutirril-CoA deidrogenasi | Aciduria isobutirrica |
| nl | Deficiëntie van isobutyryl-CoA-dehydrogenase | Isoboterzuuracidurie |
| pt | Deficiência de isobutiril-coA desidrogenase | Acidúria isobutírica |
| pl | Niedobór dehydrogenazy izobutyrylo-CoA | Acyduria izobutyrylowa |
| cs | Deficit izobutyryl-CoA dehydrogenázy | Izomáselná acidurie |
| uk | Дефіцит ізобутирил-КоА-дегідрогенази | Ізомаслянокисла ацидурія |
| zh | 异丁基辅酶A脱氢酶缺陷症 | 异丁酸尿症 |
| tr | İzobutiril-KoA dehidrojenaz eksikliği | İzobütirik asidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611283 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0012648 | E | validated | |
| MeSH | C535541 | E | validated | |
| UMLS | C1969809 | E | validated | |
| GARD | 10223 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACAD8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:87 | ENSG00000151498 | 604773 | 11q25 | acyl-CoA dehydrogenase family member 8 | 24635911[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2019-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| Occasional (29-5%) | ||
| HP:0001944 | Dehydration | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001252 | Hypotonia | |
| HP:0012734 | Ketotic hypoglycemia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002013 | Vomiting | |
Annotation source: 12736383[PMID]_15505379[PMID]_16857760[PMID]_30253142[PMID]_28053874[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79159
- This record as JSON: /data/d/79159.json