Table 1 The various deficiencies of urea cycle disorders
From: Management of late onset urea cycle disorders—a remaining challenge for the intensivist?
Cofactor |
N-Acetylglutamate synthase deficiency (NAGSD) |
Enzymes |
Carbamyl phosphate synthetase 1 deficiency (CPS1D) |
Ornithine transcarbamylase deficiency (OTCD) |
Argininosuccinate synthetase deficiency (ASSD) (citrullinemia) |
Argininosuccinate lyase deficiency (ASLD) (Argininosuccinic aciduria) |
Arginase deficiency (ARGD, argininemia) |
Transporter |
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine transporter 1 deficiency (ORNT1D) |
Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency (CITRIN) |