Newborn Period |
Asymptomatic infant
Transient hyperammonemia of the newborn |
Asymptomatic at birth; symptomatic after 24–72 h protein feeding
Organic acidurias
Methylmalonicacidemia
Propionicacidemia
Isovalericacidemia
Multiple carboxylase (biotinidase) deficiency
Others Urea cycle defects other than arginase deficiency |
Symptomatic at birth or within first day of life
Asphyxia
Congenital hepatic disease
Congenital lactic acidosis
Pyruvate dehydrogenase deficiency
Pyruvate carboxylase deficiency (type B)
Glutaricaciduria, type II
Short-chain acyl-CoA dehydrogenase deficiency |
Older Child and Adult |
Primary metabolic disease
Urea cycle defects
Incomplete blocks (i.e., ornithine carbamoyltransferase deficiency heterozygotes)
Arginase deficiency
Dibasic aminoacidurias
Lysinuric protein intolerance
Hyperornithinemic states
Partial defect of ornithine decarboxylase (hyperammonemia-hyperornithinemia-homocitrullinuria [HHH syndrome])
Deficiency of ornithine-ketoacid aminotransferase
Partial
Severe—associated with gyrate atrophy of the retina
Primary carnitine deficiency |
Liver disease |
Drugs
Valproic acid
Salicylates
Others |
