KEGG   DISEASE: Thiamine pyrophosphokinase deficiency
Entry
H01567                      Disease                                

Name
Thiamine pyrophosphokinase deficiency;
Thiamine metabolism dysfunction syndrome 5
Description
Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that present as episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by mutations TPK1. TPK produces thiamine pyrophosphate (TPP). TPP is a cofactor for enzymes important in a range of fundamental processes such as cellular respiration. It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental progression.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H01567  Thiamine pyrophosphokinase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C5Y  Other specified inborn errors of metabolism
     H01567  Thiamine pyrophosphokinase deficiency
Pathway
hsa00730  Thiamine metabolism
Gene
TPK1 [HSA:27010] [KO:K00949]
Comment
See also H01354 Leigh syndrome, H00990 Microcephaly, Amish type, H01231 Biotin-responsive basal ganglia disease, and H01183 Thiamine-responsive megaloblastic anemia.
Other DBs
ICD-11: 5C5Y
ICD-10: E51.8
OMIM: 614458
Reference
  Authors
Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Matakovic L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA
  Title
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
  Journal
Mol Genet Metab 113:301-6 (2014)
DOI:10.1016/j.ymgme.2014.09.010

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