TYROSINEMIA III

Q: What is TYROSINEMIA III?

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

Q: Gibt es eine deutsche Bezeichnung?

Tyrosinämie Typ 3; 4-Hydroxyphenylpyruvat-Dioxygenase-Mangel

Q: Which enzymes are involved?

4-hydroxyphenylpyruvate dioxygenase

Question 1

What is  TYROSINEMIA III?

Accepted Answer

rare (<1:1000000)
autosomal recessive
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

Tyrosinämie Typ 3; 4-Hydroxyphenylpyruvat-Dioxygenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 276710

Question 4

Which enzymes are involved?

Accepted Answer

4-hydroxyphenylpyruvate dioxygenase

Disease	TYROSINEMIA III
Synonym	4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY
OMIM	276710 OMIM = Online Mendelian Inheritance of Men
Orphanet	69723
Protein (UniProt)	4-hydroxyphenylpyruvate dioxygenase
ExPASy	1.13.11.27
Gene locus	12q24.31
ICD	E70.2
Summary	rare (<1:1000000) autosomal recessive Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD) are responsible for tyrosinemia type III and hawkinsinuria [Tomoeda K et al. 2000]
Laboratory findings	L-Tyrosine inc (plasma) 4-Hydroxyphenylacetic acid inc (urine) 4-Hydroxyphenyllactic acid inc (urine) 4-Hydroxyphenylpyruvic acid inc (urine)
Symptoms	Amino acids, plasma intellectual disability/intellectual developmental disorder mental retardation Organic acids, urine ataxia cerebral atrophy epilepsy lethargy, drowsiness, apathy MRI, brain, abnormalities [-] onset, infancy onset, neonatal seizures