<unk> , also called Hyperonithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle disorder affecting the enzyme<unk><unk> , which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Ornithine translocase deficiency
Carbamoyl phosphate synthetase I deficiency
Triosephosphate isomerase deficiency
Pyruvate kinase deficiency
Galactose epimerase deficiency
ALA dehydratase deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Fructose bisphosphatase deficiency