PAICS DEFICIENCY

Question 1

What is  PAICS DEFICIENCY?

Accepted Answer

autosomal recessive

inborn error of de novo purine synthesis [Pelet A 2019]

Question 2

Which enzymes are involved?

Accepted Answer

AIR carboxylase/SAICAR synthetase

Disease	PAICS DEFICIENCY
ExPASy	4.1.1.21/6.3.2.6
Gene locus	4q12
ICD
Summary	autosomal recessive inborn error of de novo purine synthesis [Pelet A 2019]
Laboratory findings
Symptoms	congenital malformation early death onset, fetus onset, neonatal