Mitochondrial pyruvate carrier deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial pyruvate carrier deficiency | |
| fr | Déficit en transporteur mitochondrial du pyruvate | |
| de | Mitochondrialer Pyruvat-Carrier-Mangel | |
| es | Deficiencia del transportador mitocondrial del piruvato | |
| it | Deficit del trasportatore mitocondriale del piruvato | |
| nl | Mitochondriale pyruvaat-carrier-deficiëntie | |
| pt | Défice do transportador mitocondrial do piruvato | |
| pl | Niedobór mitochondrialnego nośnika pirogronianu | |
| cs | Deficit mitochondriálního pyruvátového přenašeče | |
| uk | Дефіцит мітохондріального переносника пірувату | |
| zh | 线粒体丙酮酸载体缺乏症 | |
| tr | Mitokondriyal pirüvat taşıyıcı eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614741 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.0Y | NTBT | attributed | validated |
| MONDO | 0013877 | E | validated | |
| UMLS | C3553607 | 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:254746Pyruvate metabolism disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21606 | ENSG00000060762 | 614738 | 6q27 | mitochondrial pyruvate carrier 1 | 22628558[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22628558[PMID]_12649063[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22628558[PMID]_12649063[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/447784
- This record as JSON: /data/d/447784.json