KEGG DISEASE: Thiamine pyrophosphokinase deficiency

KEGG

DISEASE: Thiamine pyrophosphokinase deficiency

Entry

H01567                      Disease

Name

Thiamine pyrophosphokinase deficiency;
Thiamine metabolism dysfunction syndrome 5

Supergrp

Thiamine metabolism dysfunction syndrome [DS:H02832]

Description

Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that has episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of thiamine metabolism dysfunction syndrome caused by TPK1 mutations. 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 disorder

Brite

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

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:

OMIM:

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

LinkDB

» Japanese version

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