9hjc

Structural highlights

Disease

TPK1_HUMAN Childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.^[1]

Function

TPK1_HUMAN Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.^[2]

References

1. ↑ Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011 Dec 9;89(6):806-12. doi: 10.1016/j.ajhg.2011.11.007. PMID:22152682 doi:10.1016/j.ajhg.2011.11.007
2. ↑ Nosaka K, Onozuka M, Kakazu N, Hibi S, Nishimura H, Nishino H, Abe T. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. Biochim Biophys Acta. 2001 Jan 26;1517(2):293-7. PMID:11342111