Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is a novel autosomal recessive inborn error resulting in multiple malformations and early neonatal death. It has been reported that a homozygous missense mutation in PAICS causes this disease. PAICS encodes a bifunctional enzyme involved in de novo purine synthesis.
Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdottir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M
タイトル
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
