ORPHA:268173
Intermittent maple syrup urine disease
Synonyms: Intermittent BCKD deficiency · Intermittent MSUD · Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermittent maple syrup urine disease | Intermittent BCKD deficiency · Intermittent MSUD · Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency |
| fr | Maladie des urines sirop d'érable, forme intermittente | Cétoacidurie à chaînes ramifiées intermittente · Déficit en BCKD, forme intermittente · Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme intermittente · Leucinose intermittente · MSUD intermittente · Maladie des urines à odeur de sirop d'érable, forme intermittente |
| de | Ahornsirup-Krankheit, intermittierende | BCKD-Mangel, intermittierender · MSUD, intermittierend · Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, intermittierend |
| es | Enfermedad de la orina con olor a jarabe de arce intermitente | Deficiencia de BCKD intermitente · Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada intermitente · EOOJA intermitente · MSUD intermitente |
| it | Malattia delle urine a scrioppo di acero, tipo intermittente | Deficit della 2-chetoacido deidrogenasi a catena ramificata, tipo intermittente · Deficit intermittente della chetoacido deidrogenasi a catena ramificata · Deficit intermittente di BCKD · MSUD intermittente |
| nl | Intermitterende maple syrup urine disease | Intermitterende BCKD-deficiëntie · Intermitterende MSUD · Intermitterende ahornsiroopurineziekte · Intermitterende deficiëntie van vertakte keten-alfa-ketozuurdehydrogenase · Intermitterende esdoornsiroopurineziekte |
| pt | Doença da urina xarope de bordo intermitente | Deficiência de BCKD intermitente · Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada intermitente · MSUD intermitente |
| pl | Postać przerywana choroby syropu klonowego | Postać przerywana MSUD · Przerywany Niedobór BCKD · Przerywany Niedobór dehydrogenazy ketokwasów rozgałęzionych |
| cs | Intermitentní forma leucinózy | Intermitentní forma nemoci javorového sirupu · Intermitentní forma deficitu BCKD · Intermitentní forma MSUD · Intermitentní forma deficitu dehydrogenázy větvených 2-ketokyselin |
| uk | Інтермітуюча хвороба сечі кленового сиропу | Переривчастий дефіцит BCKD · Переривчастий дефіцит альфа-кетокислотної дегідрогенази з розгалуженим ланцюгом · Переривчастий MSUD |
| zh | 间歇性枫糖尿病 | 中间型支链α酮酸脱氢酶缺乏症 |
| tr | Aralıklı akçaağaç şurubu idrar hastalığı | Aralıklı MSUD · Aralıklı BCKD eksikliği · Aralıklı 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 | 0017053 | E | validated | |
| UMLS | C0268569 | 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
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] |
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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/268173
- This record as JSON: /data/d/268173.json