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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)