ORPHA:268145
Classic maple syrup urine disease
Synonyms: Classic BCKD deficiency · Classic MSUD · Classic branched-chain alpha-ketoacid dehydrogenase deficiency · Classic branched-chain ketoaciduria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic maple syrup urine disease | Classic BCKD deficiency · Classic MSUD · Classic branched-chain alpha-ketoacid dehydrogenase deficiency · Classic branched-chain ketoaciduria |
| fr | Maladie des urines sirop d'érable, forme classique | Cétoacidurie à chaînes ramifiées classique · Déficit en BCKD, forme classique · Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme classique · Leucinose classique · MSUD classique · Maladie des urines à odeur de sirop d'érable, forme classique |
| de | Ahornsirup-Krankheit, klassische | BCKD-Mangel, klassischer · MSUD, klassisch · Verzweigtketten-Ketoazidurie, klassische · Verzweigtketten-Ketonurie, klassische · Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, klassisch |
| es | Enfermedad de la orina con olor a jarabe de arce clásica | Cetoaciduria de cadena ramificada clásica · Deficiencia de BCKD clásica · Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada clásica · EOOJA clásica · MSUD clásica |
| it | Malattia delle urine a sciroppo di acero classica | Deficit classico di BCKD · Deficit della 2-chetoacido deidrogenasi a catena ramificata, tipo classico · MSUD classica |
| nl | Klassieke maple syrup urine disease | Klassieke BCKD-deficiëntie · Klassieke MSUD · Klassieke ahornsiroopurineziekte · Klassieke deficiëntie van vertakte keten-alfa-ketozuurdehydrogenase · Klassieke esdoornsiroopurineziekte · Klassieke vertakte keten-ketoacidurie |
| pt | Doença da urina xarope de bordo clássica | Cetoacidúria de cadeia ramificada clássica · Deficiência de BCKD clássica · Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada clássica · MSUD clássica |
| pl | Klasyczna choroba syropu klonowego | Klasyczna ketoacyduria łańcuchów rozgałęzionych · Klasyczna MSUD · Klasyczny Niedobór BCKD · Klasyczny Niedobór dehydrogenazy ketokwasów rozgałęzionych |
| cs | Klasická leucinóza | Klasická nemoc javorového sirupu · Klasický deficit BCKD · Klasická MSUD · Klasický deficit dehydrogenázy větvených 2-ketokyselin |
| uk | Класична хвороба сечі кленового сиропу | Класична недостатність BCKD · Класичний дефіцит альфа-кетокислотної дегідрогенази з розгалуженим ланцюгом · Класична розгалужена кетоацидурія · Класичний MSUD |
| zh | 经典枫糖尿病 | 经典型支链α酮酸脱氢酶缺乏症 |
| tr | Klasik akçaağaç şurubu idrar hastalığı | Klasik MSUD · Klasik BCKD eksikliği · Klasik dallı zincirli ketoasidüri · Klasik dallı zincirli alfa-ketoasit dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248600 | BTNT | validated | |
| OMIM | 620698 | BTNT | validated | |
| OMIM | 620699 | BTNT | validated | |
| ICD-10 | E71.0 | NTBT | attributed | validated |
| ICD-11 | 5C50.D0 | NTBT | index | validated |
| MONDO | 0017051 | E | validated | |
| UMLS | C0268568 | 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:511Maple syrup urine disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCKDHB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:987 | ENSG00000083123 | 248611 | 6q14.1 | branched chain keto acid dehydrogenase E1 subunit beta | 20301495[PMID] |
| DBT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2698 | ENSG00000137992 | 248610 | 1p21.2 | dihydrolipoamide branched chain transacylase E2 | 20301495[PMID] |
| BCKDHA | Disease-causing germline mutation(s) in | Assessed | HGNC:986 | ENSG00000248098 | 608348 | 19q13.2 | branched chain keto acid dehydrogenase E1 subunit alpha | 20301495[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268145
- This record as JSON: /data/d/268145.json