- Glyoxalase deficiency (HP:0003258). Evidence: TAS. (OMIM:231900)
- Reduced glutathione synthetase level (HP:0003343): Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. Evidence: PCS. Frequency: 6/6. (PMID:3944259;PMID:8896573)
- Increased level of L-pyroglutamic acid in urine (HP:0410132): An increase in the level of L-pyroglutamic acid in the urine. Evidence: PCS. Frequency: 4/4. (PMID:8896573)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 4/4. (PMID:3944259;PMID:8896573)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:8896573)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 2/4. (PMID:3944259;PMID:8896573)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 2/4. (PMID:3944259;PMID:8896573)
These phenotypes are associated with the disease glutathione synthetase deficiency without 5-oxoprolinuria (OMIM:231900).