HAWKINSINURIA

Question 1

What is  HAWKINSINURIA?

Accepted Answer

very rare
autosomal dominant
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD) are responsible for tyrosinemia type III and hawkinsinuria [Tomoeda K et al. 2000]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hawkinsinurie; 4-HPPD [4-alpha-Hydroxyphenylpyruvat-Dioxygenase]-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 140350

Question 4

Which enzymes are involved?

Accepted Answer

4-hydroxyphenylpyruvate dioxygenase; 4-alpha-hydroxyphenylpyruvate hydroxylase

Disease	HAWKINSINURIA
Synonym	4-@HYDROXYPHENYLPYRUVATE HYDROXYLASE DEFICIENCY
OMIM	140350 OMIM = Online Mendelian Inheritance of Men
Orphanet	2118
Protein (UniProt)	4-hydroxyphenylpyruvate dioxygenase; 4-alpha-hydroxyphenylpyruvate hydroxylase
ExPASy	1.13.11.27
Gene locus	12q24.31
ICD	E70.2
Summary	very rare autosomal dominant Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD) are responsible for tyrosinemia type III and hawkinsinuria [Tomoeda K et al. 2000]
Laboratory findings	Hawkinsin inc (urine) L-Pyroglutamic acid (5-Oxoproline) inc (urine) 4-Hydroxycyclohexylacetic acid inc (urine) 4-Hydroxyphenylacetic acid inc (urine) 4-Hydroxyphenyllactic acid inc (urine) 4-Hydroxyphenylpyruvic acid inc (urine) Bicarbonate dec (blood) Hawkinsin inc (plasma) Ketone bodies (urine) normal/inc (urine) L-Tyrosine inc (plasma) pH dec (blood) Succinylacetone normal (urine)
Symptoms	failure to thrive liver involvement or dysfunction radiohumeral synostosis skeletal changes, skeletal abnormalities ketosis, ketoacidosis mental retardation metabolic acidosis no clinical symptoms (probably) onset, childhood onset, infancy swimming pool odor