ORPHA:511
Maple syrup urine disease
Synonyms: BCKD deficiency · BCKDH deficiency · Branched-chain 2-ketoacid dehydrogenase deficiency · Branched-chain ketoaciduria · MSUD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maple syrup urine disease | BCKD deficiency · BCKDH deficiency · Branched-chain 2-ketoacid dehydrogenase deficiency · Branched-chain ketoaciduria · MSUD |
| fr | Maladie des urines sirop d'érable | Cétoacidurie à chaînes ramifiées · Déficit en BCKD · Déficit en BCKDH · Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée · Leucinose · MSUD · Maladie des urines à odeur de sirop d'érable |
| de | Ahornsirup-Krankheit | Alpha-Ketosäuredecarboxylase-Mangel · BCKD-Mangel · BCKDH-Mangel · MSUD · Verzweigtkettenketoazidurie |
| es | Enfermedad de la orina con olor a jarabe de arce | Cetoaciduria de cadena ramificada · Deficiencia de 2-cetoácido deshidrogenasa de cadena ramificada · Deficiencia de BCKD · Deficiencia de BCKDH · EOOJA · MSUD |
| it | Malattia delle urine a sciroppo d'acero | Chetoaciduria a catena ramificata · Deficit di 2-chetoacido deidrogenasi a catena ramificata · Deficit di BCKD · Deficit di BCKDH · MSUD |
| nl | Maple syrup urine disease | Ahornsiroopurineziekte · BCKD-deficiëntie · BCKDH-deficiëntie · Esdoornsiroopurineziekte · MSUD · Vertakte keten-ketozuurdehydrogenasedeficiëntie |
| pt | Doença da urina xarope de bordo | Cetoaciduria de cadeia ramificada · Deficiência de BCKD · Deficiência de BCKDH · Deficiência de desidrogenase de 2-cetoácido de cadeia ramificada · MSUD |
| pl | Choroba syropu klonowego | Ketoaciduria łańcuchów rozgałęzionych · MSUD · Niedobór BCKD · Niedobór BCKDH · Niedobór dehydrogenazy 2-ketokwasów łańcuchów rozgałęzionych |
| cs | Leucinóza | Nemoc javorového sirupu · Deficit BCKD · Deficit BCKDH · Deficit dehydrogenázy 2-ketokyselin s větveným řetězcem |
| uk | Хвороба кленового сиропу | Дефіцит BCKD · Дефіцит BCKDH · Дефіцит дегідрогенази 2-кетокислот з розгалуженим ланцюгом · Розгалужена кетоацидурія · MSUD |
| zh | 枫糖尿病 | 支链酮酸尿症 |
| tr | Akçaağaç şurubu idrar hastalığı | MSUD · BCKD eksikliği · BCKDH eksikliği · Dallı zincirli ketoasidüri · Dallı zincirli 2-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 | E | specific | validated |
| ICD-11 | 5C50.D0 | E | specific | validated |
| MONDO | 0009563 | E | validated | |
| MeSH | D008375 | E | validated | |
| UMLS | C0024776 | E | validated | |
| GARD | 3228 | E | validated | |
| MedDRA | 10026817 | 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 (3):
- ORPHA:79197Disorder of branched-chain amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 11 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| BCKDHB | ORPHA:268145Classic maple syrup urine disease | 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] |
| BCKDHB | ORPHA:268162Intermediate maple syrup urine disease | 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] |
| BCKDHB | ORPHA:268173Intermittent maple syrup urine disease | 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 | ORPHA:268145Classic maple syrup urine disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2698 | ENSG00000137992 | 248610 | 1p21.2 | dihydrolipoamide branched chain transacylase E2 | 20301495[PMID] |
| DBT | ORPHA:268162Intermediate maple syrup urine disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2698 | ENSG00000137992 | 248610 | 1p21.2 | dihydrolipoamide branched chain transacylase E2 | 20301495[PMID] |
| DBT | ORPHA:268173Intermittent maple syrup urine disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2698 | ENSG00000137992 | 248610 | 1p21.2 | dihydrolipoamide branched chain transacylase E2 | 20301495[PMID] |
| DBT | ORPHA:268184Thiamine-responsive maple syrup urine disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2698 | ENSG00000137992 | 248610 | 1p21.2 | dihydrolipoamide branched chain transacylase E2 | 20301495[PMID] |
| BCKDHA | ORPHA:268145Classic maple syrup urine disease | Disease-causing germline mutation(s) in | Assessed | HGNC:986 | ENSG00000248098 | 608348 | 19q13.2 | branched chain keto acid dehydrogenase E1 subunit alpha | 20301495[PMID] |
| BCKDHA | ORPHA:268162Intermediate maple syrup urine disease | Disease-causing germline mutation(s) in | Assessed | HGNC:986 | ENSG00000248098 | 608348 | 19q13.2 | branched chain keto acid dehydrogenase E1 subunit alpha | 20301495[PMID] |
| BCKDHA | ORPHA:268173Intermittent maple syrup urine disease | Disease-causing germline mutation(s) in | Assessed | HGNC:986 | ENSG00000248098 | 608348 | 19q13.2 | branched chain keto acid dehydrogenase E1 subunit alpha | 20301495[PMID] |
| PPM1K | ORPHA:268162Intermediate maple syrup urine disease | Disease-causing germline mutation(s) in | Assessed | HGNC:25415 | ENSG00000163644 | 611065 | 4q22.1 | protein phosphatase, Mg2+/Mn2+ dependent 1K | 23086801[PMID] |
5
Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.78 / 100 000 | United States | Value and class | Validated | 20307994[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.79 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.3 / 100 000 | Tunisia | Value and class | Validated | 22481200[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 / 100 000 | Japan | Value and class | Validated | 6468444[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.15 / 100 000 | Portugal | Value and class | Validated | 20466570[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Australia | Value and class | Validated | 12788994[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.86 / 100 000 | Taiwan, Province of China | Value and class | Validated | 2056791[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2018[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.396 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10.2 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000600 | Abnormality of the pharynx | |
| HP:0001608 | Abnormality of the voice | |
| HP:0008344 | Elevated plasma branched chain amino acids | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0004374 | Hemiplegia/hemiparesis | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/511
- This record as JSON: /data/d/511.json