ORPHA:268162
Intermediate maple syrup urine disease
Synonyms: Intermediate BCKD deficiency · Intermediate MSUD · Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate maple syrup urine disease | Intermediate BCKD deficiency · Intermediate MSUD · Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency |
| fr | Maladie des urines sirop d'érable, forme intermédiaire | MSUD intermédiaire · Maladie des urines à odeur de sirop d'érable, forme intermédiaire · Cétoacidurie à chaînes ramifiées intermédiaire · Déficit en BCKD, forme intermédiaire · Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme intermédiaire · Leucinose intermédiaire |
| de | Ahornsirup-Krankheit, intermediäre | BCKD-Mangel, intermediärer · MSUD, intermediär · Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, intermediär |
| es | Enfermedad de la orina con olor a jarabe de arce intermedia | Deficiencia de BCKD intermedia · Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada intermedia · EOOJA intermedia · MSUD intermedia |
| it | Malattia delle urine a sciroppo di acero intermedia | Deficit della 2-chetoacido deidrogenasi a catena ramificata, tipo intermedio · Deficit intermedio di BCKD · MSUD intermedia |
| nl | Intermediaire maple syrup urine disease | Deficiëntie van intermediaire vertakte keten-alfa-ketozuurdehydrogenase · Intermediaire BCKD-deficiëntie · Intermediaire MSUD · Intermediaire ahornsiroopurineziekte · Intermediaire esdoornsiroopurineziekte |
| pt | Doença da urina xarope de bordo intermédia | Deficiência de BCKD intermédia · Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada intermédia · MSUD intermédia |
| pl | Postać pośrednia choroby syropu klonowego | Pośredni Niedobór BCKD · Pośredni Niedobór dehydrogenazy ketokwasów rozgałęzionych · Postać pośrednia MSUD |
| cs | Středně těžká leucinóza | Středně těžká nemoc javorového sirupu · Středně těžký deficit BCKD · Středně těžká MSUD · Středně těžký deficit dehydrogenázy větvených 2-ketokyselin |
| uk | Помірно виражена хвороба сечі кленового сиропу | Проміжний дефіцит BCKD · Дефіцит альфа-кетокислотної дегідрогенази проміжного розгалуженого ланцюга · Проміжний MSUD |
| zh | 中度枫糖尿病 | 中间型支链α酮酸脱氢酶缺乏症 |
| tr | Orta düzey akçaağaç şurubu idrar hastalığı | Orta düzey MSUD · Orta düzey BCKD eksikliği · Orta düzey 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 | 615135 | 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 | 0017052 | E | validated | |
| UMLS | C1621920 | 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 (1):
- ORPHA:511Maple syrup urine disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
4 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] |
| PPM1K | Disease-causing germline mutation(s) in | Assessed | HGNC:25415 | ENSG00000163644 | 611065 | 4q22.1 | protein phosphatase, Mg2+/Mn2+ dependent 1K | 23086801[PMID] |
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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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268162
- This record as JSON: /data/d/268162.json