SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (SDDHD, TKT)

Question 1

What is  SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (SDDHD, TKT)?

Accepted Answer

rare

autosomal recessive

mutation in the TKT gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617044

Question 3

Which enzymes are involved?

Accepted Answer

Transketolase (TKT)

Disease	SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (SDDHD, TKT)
Synonym	TRANSKETOLASE DEFICIENCY
OMIM	617044 OMIM = Online Mendelian Inheritance of Men
Orphanet	418688
Protein (UniProt)	Transketolase (TKT)
ExPASy	2.2.1.1
Gene locus
ICD
Summary	rare autosomal recessive mutation in the TKT gene
Laboratory findings	D-Arabitol inc (plasma) D-Arabitol inc (urine) Erythritol inc (urine) Erythritol inc (plasma) Myo-inositol dec (plasma) Ribitol inc (urine) Ribitol inc (plasma)
Symptoms	behavior, self-mutilating or destructive cataract congenital heart defect developmental delay diarrhea dysmorphism hearing defect, deafness onset, childhood onset, infancy onset, neonatal short stature speech development, delayed, abnormal strabismus uveitis