DISEASE: Short stature, developmental delay, congenital heart defect
Entry
H02439 Disease
Name
Short stature, developmental delay, congenital heart defect
Description
Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate pathway. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth.
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
5C51 Inborn errors of carbohydrate metabolism
H02439 Short stature, developmental delay, congenital heart defect
Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK
Title
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
