URIDINE-CYTIDINEURIA (URCTU)

Question 1

What is  URIDINE-CYTIDINEURIA (URCTU)?

Accepted Answer

very rare

autosomal recessive

mutations in the SLC28A1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618477

Question 3

Which enzymes are involved?

Accepted Answer

pyrimidine nucleoside transporter

Disease	URIDINE-CYTIDINEURIA (URCTU)
Synonym	NUCLEOSIDE TRANSPORTER-1 DEFICIENCY (SLC28A1)
OMIM	618477 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	15q25.3
ICD
Summary	very rare autosomal recessive mutations in the SLC28A1 gene
Laboratory findings	Cytidine inc (urine) Uridine inc (urine)
Symptoms	no clinical symptoms (probably) onset, infancy onset, neonatal seizures