The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Citrullinemia Type 2

Prevalence: 1/100000

hepatic

Official·OMIM:605814 Official·ORPHA247585

Citrin deficiency due to SLC25A13 gene mutations.

Associated Genes

SLC25A13Solute Carrier Family 25 Member 13

Chromosome 7Autosomal Recessive