TRYPTOPHANURIA WITH DWARFISM

Question 1

What is  TRYPTOPHANURIA WITH DWARFISM?

Accepted Answer

very rare (3 case reports)
autosomal recessive (?)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Tryptophanurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 276100

Question 4

Which enzymes are involved?

Accepted Answer

tryptophan-2,3-dioxygenase ?

Disease	TRYPTOPHANURIA WITH DWARFISM
Synonym	HYPERTRYPTOPHANEMIA
OMIM	276100 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	unknown
ICD
Summary	very rare (3 case reports) autosomal recessive (?)
Laboratory findings	Indolepyruvic acid inc (urine) DL-Kynurenin normal/dec (urine) Indole-3-acetic acid inc (urine) Indole-3-acetic acid inc (urine) L-Tryptophan inc (urine) L-Tryptophan inc (plasma)
Symptoms	growth retardation, poor growth ataxia blindness, visual loss, visual impairment hearing defect, deafness hypertonia, spasticity mental retardation motor retardation myopia onset, infancy onset, neonatal photophobia or photosensitive defect in light-exposed area speech development, delayed, abnormal