UROCANASE DEFICIENCY (UROCD)

Question 1

What is  UROCANASE DEFICIENCY (UROCD)?

Accepted Answer

rare
autosomal recessive
mutation in the UROC1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Urocanase-Azidurie; Enzephalopathie durch Urocanase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 276880

Question 4

Which enzymes are involved?

Accepted Answer

Urocanate hydratase

Disease	UROCANASE DEFICIENCY (UROCD)
OMIM	276880 OMIM = Online Mendelian Inheritance of Men
Orphanet	210128
Protein (UniProt)	Urocanate hydratase
ExPASy	4.2.1.49
Gene locus	3q21.3
ICD	E70.8
Summary	rare autosomal recessive mutation in the UROC1 gene
Laboratory findings	Urocanic Acid inc (urine) Urocanoylglycine inc (urine)
Symptoms	ataxia intellectual disability/intellectual developmental disorder mental retardation no clinical symptoms (probably) nystagmus onset, infancy onset, neonatal short stature tremor or twitching