ORPHA:268184
Thiamine-responsive maple syrup urine disease
Synonyms: Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD · Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thiamine-responsive maple syrup urine disease | Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD · Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency |
| fr | Maladie des urines sirop d'érable, forme sensible à la thiamine | Cétoacidurie à chaînes ramifiées sensible à la thiamine · Déficit en BCKD, forme sensible à la thiamine · Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme sensible à la thiamine · Leucinose sensible à la thiamine · MSUD sensible à la thiamine · Maladie des urines à odeur de sirop d'érable, forme sensible à la thiamine |
| de | Ahornsirup-Krankheit, Thiamin-responsive | BCKD-Mangel, Thiamin-responsiver · MSUD, Thiamin-responsiv · Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, Thiamin-responsiv |
| es | Enfermedad de la orina con olor a jarabe de arce sensible a la tiamina | Deficiencia de BCKD sensible a la tiamina · Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada sensible a la tiamina · EOOJA sensible a la tiamina · MSUD sensible a la tiamina |
| it | Malattia delle urine a sciroppo di acero tiamina-sensibile | Deficit della 2-chetoacido deidrogenasi a catena ramificata tiamina-sensibile · Deficit di BCKD tiamina-sensibile · MSUD tiamina-sensibile |
| nl | Thiamineresponsieve maple syrup urine disease | Thiamineresponsieve BCKD-deficiëntie · Thiamineresponsieve MSUD · Thiamineresponsieve ahornsiroopurineziekte · Thiamineresponsieve deficiëntie van vertakte keten-alfa-ketozuurdehydrogenase · Thiamineresponsieve esdoornsiroopurineziekte |
| pt | Doença da urina xarope de bordo sensível à tiamina | Deficiência de BCKD sensível à tiamina · Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada sensível à tiamina · MSUD sensível à tiamina |
| pl | Choroba syropu klonowego wrażliwa na tiaminę | MSUD wrażliwa na tiaminę · Niedobór BCKD wrażliwy na tiaminę · Niedobór dehydrogenazy ketokwasów rozgałęzionych wrażliwy na tiaminę |
| cs | Leucinóza reagující na thiamin | Nemoc javorového sirupu reagující na thiamin · Deficit BCKD reagující na thiamin · MSUD reagující na thiamin · Deficit dehydrogenázy větvených 2-ketokyselin, reagující na thiamin |
| uk | Тіамін-чутлива хвороба сечі кленового сиропу | Тіамінчутливий дефіцит печінково-ниркової недостатності · Дефіцит тіамінчутливої альфа-кетокислотної дегідрогенази з розгалуженим ланцюгом · Тіаміно-чутливий MSUD |
| zh | 硫胺素反应性枫糖尿病 | 硫胺素反应性支链α酮酸脱氢酶缺乏症 |
| tr | Tiamine duyarlı akçaağaç şurubu idrar hastalığı | Tiamine-duyarlı MSUD · Tiamine-duyarlı BCKD eksikliği · Tiamine-duyarlı dallı zincirli alfa-ketoasit dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248600 | NTBT | validated | |
| ICD-10 | E71.0 | NTBT | attributed | validated |
| ICD-11 | 5C50.D0 | NTBT | index | validated |
| MONDO | 0017054 | E | validated | |
| UMLS | C0751285 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DBT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2698 | ENSG00000137992 | 248610 | 1p21.2 | dihydrolipoamide branched chain transacylase E2 | 20301495[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 | Unknown | — | 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/268184
- This record as JSON: /data/d/268184.json