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Summary
URIDINE-CYTIDINEURIA (URCTU)
NUCLEOSIDE TRANSPORTER-1 DEFICIENCY (SLC28A1)
618477
OMIM = Online Medalian Inheritance of Men
---
15q25.3
very rare
autosomal recessive
mutations in the SLC28A1 gene
symptoms
no consistent clinical signs or symptoms
onset, infancy
onset, neonatal
seizures
laboratory finding
Uridine mmol/mol Creaurine
Cytidine mmol/mol creatinineurine
Literature
Stelten BML,et al.Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosisJ Inherit Metab Dis002017
Hinderhofer K,et al.Critical appraisal of genotype assessment in molybdenum cofactor deficiencyJ Inherit Metab Dis002017