HYPERTRYPTOPHANEMIA (HYPTRP)

Question 1

What is  HYPERTRYPTOPHANEMIA (HYPTRP)?

Accepted Answer

very rare

autosomal recessive

mutation in the TDO2 gene

The biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences [Ferreira P 2017]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 600627

Question 3

Which enzymes are involved?

Accepted Answer

Tryptophan 2,3-dioxygenase

Disease	HYPERTRYPTOPHANEMIA (HYPTRP)
OMIM	600627 OMIM = Online Mendelian Inheritance of Men
Orphanet	2224
Protein (UniProt)	Tryptophan 2,3-dioxygenase
ExPASy	1.13.11.11
Gene locus	4q32.2
ICD	E70.8
Summary	very rare autosomal recessive mutation in the TDO2 gene The biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences [Ferreira P 2017]
Laboratory findings	L-Tryptophan inc (plasma) Serotonine normal/inc (serum)
Symptoms	no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal