Ketoacidosis due to monocarboxylate transporter-1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ketoacidosis due to monocarboxylate transporter-1 deficiency | |
| fr | Cétoacidose par déficit en transporteur 1 de monocarboxylate | |
| de | Ketoazidose durch Monocarboxylat-Transporter 1-Mangel | |
| es | Cetoacidosis por deficiencia del transportador de monocarboxilato 1 | |
| it | Chetoacidosi da deficit del trasportatore 1 dei monocarbossilati | |
| nl | Ketoacidose als gevolg van monocarboxylaattransporter 1-deficiëntie | |
| pt | Cetoacidose por défice do transportador monocarboxilato-1 | |
| pl | Kwasica ketonowa spowodowana niedoborem transportera-1 monokarboksylanu | |
| cs | Ketoacidóza způsobená deficitem monokarboxylového transportéru 1 | |
| uk | Кетоацидоз, зумовлений дефіцитом монокарбоксилатного транспортера-1 | |
| zh | 单羧酸盐转运蛋白1缺乏症所致酮症酸中毒 | |
| tr | Monokarboksilat taşıyıcı-1 eksikliğine bağlı ketoasidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616095 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.02 | NTBT | attributed | validated |
| MONDO | 0014490 | E | validated | |
| UMLS | C4015186 | 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 (1):
- ORPHA:438072Disorder of keton body transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC16A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10922 | ENSG00000155380 | 600682 | 1p13.2 | solute carrier family 16 member 1 | 25390740[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 25390740[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25390740[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438075
- This record as JSON: /data/d/438075.json