<unk>  is a rare autosomal recessive metabolic disorder which was initially described in 1965. It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.
Triosephosphate isomerase deficiency
Mevalonate kinase deficiency
Ribose-5-phosphate isomerase deficiency
Fructose bisphosphatase deficiency
Malonyl-CoA decarboxylase deficiency
Aminoacylase 1 deficiency
Carbamoyl phosphate synthetase I deficiency
Enolase deficiency