ORPHA:79157
2-methylbutyryl-CoA dehydrogenase deficiency
Synonyms: 2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency · SBCAD deficiency · Short/branched-chain acyl-coA dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2-methylbutyryl-CoA dehydrogenase deficiency | 2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency · SBCAD deficiency · Short/branched-chain acyl-coA dehydrogenase deficiency |
| fr | Déficit en 2-méthylbutyryl-CoA déshydrogénase | Acidurie 2-méthylbutyrique · Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte ou ramifiée · Retard de développement par déficit en 2-méthylbutyryl-CoA déshydrogénase |
| de | 2-Methylbutyryl-CoA-Dehydrogenase-Mangel | SBCAD-Mangel · 2-Methylbutyrazidurie · Acyl-CoA-Dehydrogenase-Mangel, kurz/verzweigtkettige · Entwicklungsverzögerung durch 2-Methylbutyryl-CoA-Dehydrogenase-Mangel |
| es | Deficiencia de 2-metilbutiril-CoA deshidrogenasa | Aciduria 2-metilbutírica · Deficiencia de SBCAD · Deficiencia de acil-CoA deshidrogenasa de cadena corta/ramificada · Retraso del desarrollo por deficiencia de 2-metilbutiril-CoA-deshidrogenasa |
| it | Deficit di 2-metilbutirril-CoA deidrogenasi | Aciduria 2-metilbutirrica · Deficit di SBCAD · Deficit di acil-CoA deidrogenasi a catena corta/ramificata · Ritardo dello sviluppo da deficit di 2-metilbutirril-CoA deidrogenasi |
| nl | 2-methylbutyryl-CoA-dehydrogenasedeficiëntie | 2-methylboterzuuracidurie · Korte/vertakte keten acyl-CoA-dehydrogenasedeficiëntie · Ontwikkelingsachterstand als gevolg van 2-methylbutyryl-CoA-dehydrogenasedeficiëntie · SBCAD-deficiëntie |
| pt | Deficiência de 2-metilbutiril-coA desidrogenase | Acidúria 2-metilbutírica · Deficiência de acil-coA desidrogenase de cadeias curtas/ramificadas · Perturbação do desenvolvimento por deficiência de 2-metilbutiril-coA desidrogenase |
| pl | Niedobór dehydrogenazy 2-metylobutyrylo-CoA | Acyduria 2-metylobutyrylowa · Niedobór dehydrogenazy krótkich/rozgałęzionych łańcuchów acylo-CoA · Niedobór SBCAD · Opóźnienie rozwoju z powodu niedoboru dehydrogenazy 2-metylobutyrylo-CoA |
| cs | Deficit 2-methylbutyryl-CoA dehydrogenázy | 2-methylmáselná acidurie · Deficit SBCAD · Opožděný vývoj způsobený deficitem 2-methylbutyryl-CoA dehydrogenázy · Deficit dehydrogenázy acyl-CoA s krátkými/větvenými řetězci |
| uk | Дефіцит 2-метилбутирил-КоА-дегідрогенази | 2-метилмасляна ацидурія · Затримка розвитку через дефіцит 2-метилбутирил-КоА-дегідрогенази · Дефіцит SBCAD · Дефіцит ацил-коА-дегідрогенази з коротким/розгалуженим ланцюгом |
| zh | 2-甲基丁酰辅酶A脱氢酶缺陷症 | 2-甲基丁酰基辅酶A脱氢酶缺乏所致发育迟缓 |
| tr | 2-metilbütiril-KoA dehidrojenaz eksikliği | SBCAD eksikliği · 2-metilbütirik asidüri · Kısa/dallı zincirli açil-coA dehidrojenaz eksikliği · 2-metilbütiril-CoA dehidrojenaz eksikliğine bağlı gelişme geriliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610006 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0012392 | E | validated | |
| MeSH | C566487 | E | validated | |
| UMLS | C1864912 | E | validated | |
| GARD | 10322 | 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:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACADSB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:91 | ENSG00000196177 | 600301 | 10q26.13 | acyl-CoA dehydrogenase short/branched chain | 20547083[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
9 annotations · validated 2025-08-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0033220 | 2-ethylhydracylic aciduria | |
| HP:0035019 | Elevated circulating C5 acylcarnitine concentration | |
| Occasional (29-5%) | ||
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0000717 | Autism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000252 | Microcephaly | |
Annotation source: 30730842[PMID]_40835664[PMID]_31555323[PMID]_36147814[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79157
- This record as JSON: /data/d/79157.json