Beta-mercaptolactate cysteine disulfiduria
historical
Synonyms: 3-mercaptopyruvate sulfurtransferase deficiency · Ampola syndrome · MCDU
- Type
- Biological anomaly
- Group
- Disorder
- Age of onset
- No data available
- Status
- historical
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-mercaptolactate cysteine disulfiduria | 3-mercaptopyruvate sulfurtransferase deficiency · Ampola syndrome · MCDU |
| fr | Bêta-mercaptolactate cystéine disulfidurie | Déficit en 3-mercaptopyruvate sulfurtransferase · MCDU · Syndrome d'Ampola |
| de | Beta-Mercaptolaktat-Cystein Disulfidurie | 3-Mercaptopyruvat-Sulfurtransferase-Mangel · Ampola-Syndrom · MCDU |
| es | Disulfiduria por beta-mercaptolactato-cisteína | MCDU · Síndrome de Ampola · Deficiencia de 3-mercaptopiruvato sulfurotransferasa |
| it | Disulfiduria da beta-mercaptolattato cisteina | Deficit di 3-mercaptopiruvato sulfurtransferasi · MCDU · Sindrome di Ampola |
| nl | Bèta-mercaptolactaat-cysteïne-disulfidurie | 3-mercaptopyruvaat-sulfurtransferasedeficiëntie · MCDU · Syndroom van Ampola |
| pt | Disulfiduria por beta-mercaptolactato cistéina | |
| pl | Encefalopatia spowodowana disulfidurią merkaptomleczano-cysteinową | Zespół Ampola |
| cs | Encefalopatie způsobená beta-merkaptolaktát-cysteinovou disulfidurií | Ampolové syndrom |
| uk | Бета-меркаптолактатна цистеїнова дисульфідурія | Дефіцит 3-меркаптопіруватсульфурттрансферази · Синдром Ампола · MCDU |
| zh | β-巯基乳酸半胱氨酸二硫尿症 | 3-巯基丙酮酸硫酸转移酶缺乏症 |
| tr | Beta-merkaptolaktat sistein disülfürüri | MCDU · Ampola sendromu · 3-merkaptopiruvat sülfürtransferaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249650 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | attributed | validated |
| MONDO | 0009585 | E | validated | |
| UMLS | C0796055 | E | validated | |
| GARD | 654 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:447874Biological anomaly without phenotypic characterization
rare genetic diseases - ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 4973015[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4973015[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.
HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000348 | High forehead | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001166 | Arachnodactyly | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000958 | Dry skin | |
| HP:0002353 | EEG abnormality | |
| HP:0002007 | Frontal bossing | |
| HP:0002857 | Genu valgum | |
| HP:0000218 | High palate | |
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002983 | Micromelia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001852 | Sandal gap | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000069 | Abnormality of the ureter | |
| HP:0001631 | Atrial septal defect | |
| HP:0001513 | Obesity | |
| HP:0001537 | Umbilical hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1035
- This record as JSON: /data/d/1035.json