N-acetylglutamate synthase deficiency | Autosomal recessive | N-acetylglutamate synthase | Encephalopathy, neurobehavioral | Hyperammonemia, elevated plasma glutamine, low citrulline | DNA |
Carbamyl phosphate synthetase deficiency | Autosomal recessive | Carbamyl phosphate synthetase | Encephalopathy, neurobehavioral | Hyperammonemia, elevated plasma glutamine, low citrulline | Liver enzyme analysis, DNA |
Ornithine transcarbamylase (OTC) deficiency | X-linked semi-dominant | Ornithine transcarbamylase deficiency | Encephalopathy, neurobehavioral, liver disease (infrequently) | Hyperammonemia, elevated plasma glutamine, low citrulline,
elevated urine orotic acid | DNA, liver enzyme analysis |
Citrullinemia type I | Autosomal recessive | Argininosuccinate synthetase | Encephalopathy, neurobehavioral | Hyperammonemia, elevated plasma citrulline | Fibroblast enzyme analysis, DNA |
Argininosuccinic aciduria | Autosomal recessive | Argininosuccinate lyase | Encephalopathy, neurobehavioral, liver disease (frequently),
trichorrhexis nodosa | Hyperammonemia, elevated plasma citrulline, and argininosuccinic
acid | Fibroblast enzyme analysis, DNA |
Argininemia | Autosomal recessive | Arginase | Spastic diplegia, neurobehavioral | Elevated plasma arginine, elevated urine orotic acid | Red blood cell enzyme analysis |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) | Autosomal recessive | Ornithine mitochondrial transporter | Encephalopathy, neurobehavioral, spastic diplegia, retinal
disease | Hyperammonemia, elevated plasma ornithine, elevated urine
homocitrulline, elevated urine orotic acid | Fibroblast incorporation assay, DNA |
Citrullinemia type II | Autosomal recessive | Citrin (aspartate/glutamate transporter) | Neuropsychiatric, neonatal cholestatic hepatitis | Hyperammonemia, elevated plasma citrulline, and arginine | DNA |
Hyperdibasic aminoaciduria, (lysinuric protein intolerance) | Autosomal recessive | Dibasic amino acid transporter | Protein intolerance, vomiting, pulmonary alveolar proteinosis,
glomerulonephritis, immune deficiency | Hyperammonemia, elevated urine lysine, ornithine, and arginine | DNA |