Primary causes of hyperammonemia include congenital enzymopathies in the urea cycle, such as deficiencies of ornithine transcarbamoylase
and argininosuccinate lyase.
For fluorescence PCR analysis of the 9-bp deletion, we prepared two PCR primers (9Del-AS and 9Del-AS; Table 1), and three templates; two were the reverse transcription products of the total RNA isolated from the liver of a patient with CPS1 deficiency and a patient with ornithine transcarbamoylase
deficiency (as a control); a plasmid containing the homozygous 9-bp deletion mutation was used.
1]-antitrypsin deficiency Breast cancer(*) Canavan disease Charcot-Marie-Tooth disease Congenital adrenal hyperplasia Cystic fibrosis Duchenne/Becker muscular dystrophy Hereditary thrombotic predisposition (Factor V mutation) Familial adenomatous polyposis Familial hypercholesterolemia Fragile X syndrome Galactosemia Gaucher disease Hemophilia A and B Huntington's disease Marfan syndrome Mitochondrial disorders Myotonic dystrophy Neurofibromatosis types 1 and 2 Ornithine transcarbamoylase
(OTC) deficiency Phenylketonuria Spinal muscular atrophy Spinocerebellar ataxia Sickle-cell disease Tay-Sachs disease [Alpha] and [Beta]-thalassemia Tuberous sclerosis(*) Von Hippel-Lindau disease(*)