Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| fr | Encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase | |
| de | Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel | |
| es | Encefalopatía infantil por deficiencia de tiamina pirofosfoquinasa | |
| it | Encefalopatia infantile da deficit di tiamina pirofosfochinasi | |
| nl | Encefalopathie in de kindertijd door deficiëntie van thiaminepyrofosfokinase | |
| pt | Encefalopatia da infância por deficiência de tiamina pirofosfoquinase | |
| pl | Encefalopatia dziecięca z powodu niedoboru pirofosfokinazy tiaminy | |
| cs | Encefalopatie v dětství způsobená deficitem thiaminpyrofosfokinázy | |
| uk | Дитяча енцефалопатія внаслідок дефіциту тіамінпірофосфокінази | |
| zh | 硫胺素焦磷酸激酶缺乏所致儿童脑病 | |
| tr | Tiamin pirofosfokinaz eksikliğine bağlı çocukluk çağı ensefalopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614458 | E | validated | |
| ICD-10 | E51.8 | NTBT | attributed | validated |
| ICD-11 | 5B5A.Y | NTBT | attributed | validated |
| MONDO | 0013761 | E | validated | |
| UMLS | C4751138 | E | validated | |
| GARD | 13571 | 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:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TPK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17358 | ENSG00000196511 | 606370 | 7q35 | thiamin pyrophosphokinase 1 | 22152682[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22152682[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293955
- This record as JSON: /data/d/293955.json