URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY

Question 1

What is  URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutation in the NT5C3A gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hämolytische Anämie durch Pyrimidin-5-Nukleotidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 266120

Question 4

Which enzymes are involved?

Accepted Answer

Cytosolic 5-nucleotidase 3A

Disease	URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY
OMIM	266120 OMIM = Online Mendelian Inheritance of Men
Orphanet	35120
Protein (UniProt)	Cytosolic 5-nucleotidase 3A
ExPASy	3.1.3.91
Gene locus	7p14.3
ICD	D55.3
Summary	rare autosomal recessive mutation in the NT5C3A gene
Laboratory findings	Glutathione normal/dec (erythrocytes) Myoglobin inc (urine)
Symptoms	anemia hemolysis onset, adolescent onset, childhood onset, infancy splenomegaly (large spleen)