Few characteristic clinical findings have been observed in patients with these enzyme deficiencies. Therefore, in the case of a congenital hemolytic anemia that is not caused by hemoglobinopathy or a membrane abnormality, glycolytic enzyme activities should be screened. This accumulation results in expansion of the total red cell nucleotide pool to a level five times normal. Pyrimidine nucleotides accumulate, and adenine nucleotides are decreased. The accumulation and aggregation of undegraded ribosomes also contribute to basophilic stippling.
Glycolysis is impaired by an undetermined mechanism.