KEGG   DISEASE: Triokinase and FMN cyclase deficiency syndrome
Entry
H02727                      Disease                                
Name
Triokinase and FMN cyclase deficiency syndrome
Description
Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with lactic acidosis. TKFC encodes a bifunctional enzyme involved in fructose metabolism through its glyceraldehyde kinase activity and in the generation of riboflavin cyclic 4',5'-phosphate (cyclic FMN) through an FMN lyase domain.
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
     H02727  Triokinase and FMN cyclase deficiency syndrome
Gene
TKFC [HSA:26007] [KO:K00863]
Other DBs
ICD-11: 5C5Y
OMIM: 618805
Reference
PMID:32004446
  Authors
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
  Title
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
  Journal
Am J Hum Genet 106:256-263 (2020)
DOI:10.1016/j.ajhg.2020.01.005
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