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childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Disease Summary
Associated Targets (1)
Tbio
1
GARD Rare
Uniprot Description An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits.
Mondo Term and Equivalent IDs
MONDO:0013761: childhood encephalopathy due to thiamine pyrophosphokinase deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614458
Orphanet:293955
UMLS:C3280866
MONDO:0013761
High level summary of knowledge for a disease, including descriptions and datasource references.