Disease on EC 3.5.2.9 - 5-oxoprolinase (ATP-hydrolysing)
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5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.
5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.
5-oxoprolinase (atp-hydrolysing) deficiency
5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.
5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
5-oxoprolinase (atp-hydrolysing) deficiency
A newborn infant with generalized glutathione synthetase deficiency.
5-oxoprolinase (atp-hydrolysing) deficiency
Acetaminophen Use Concomitant with Long-Lasting Flucloxacillin Therapy: A Dangerous Combination.
5-oxoprolinase (atp-hydrolysing) deficiency
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
5-oxoprolinase (atp-hydrolysing) deficiency
Coma, metabolic acidosis, and methemoglobinemia in a patient with acetaminophen toxicity.
5-oxoprolinase (atp-hydrolysing) deficiency
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
5-oxoprolinase (atp-hydrolysing) deficiency
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
5-oxoprolinase (atp-hydrolysing) deficiency
Inborn errors in the metabolism of glutathione.
5-oxoprolinase (atp-hydrolysing) deficiency
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
5-oxoprolinase (atp-hydrolysing) deficiency
Patients with genetic defects in the gamma-glutamyl cycle.
5-oxoprolinase (atp-hydrolysing) deficiency
Pyroglutamic acid-induced metabolic acidosis: a case report.
5-oxoprolinase (atp-hydrolysing) deficiency
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Acidosis
Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy.
Anemia
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.
Anemia, Hemolytic
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Brain Diseases
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
Breast Neoplasms
Glutamine affects glutathione recycling enzymes in a DMBA-induced breast cancer model.
Drug-Related Side Effects and Adverse Reactions
Potential for selective modulation of glutathione in cancer chemotherapy.
gamma-glutamyltransferase deficiency
Patients with genetic defects in the gamma-glutamyl cycle.
glutathione synthase deficiency
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
glutathione synthase deficiency
A newborn infant with generalized glutathione synthetase deficiency.
glutathione synthase deficiency
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
glutathione synthase deficiency
Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.
glutathione synthase deficiency
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Heart Failure
OPLAH ablation leads to accumulation of 5-oxoproline, oxidative stress, fibrosis, and elevated fillings pressures: a murine model for heart failure with a preserved ejection fraction.
Malnutrition
Acetaminophen Use Concomitant with Long-Lasting Flucloxacillin Therapy: A Dangerous Combination.
Microcephaly
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.
Neoplasms
Activity and distribution of the cysteine prodrug activating enzyme, 5-oxo-L-prolinase, in human normal and tumor tissues.
Neoplasms
Characterization of 5-oxo-L-prolinase in normal and tumor tissues of humans and rats: a potential new target for biochemical modulation of glutathione.
Neoplasms
Glutamine affects glutathione recycling enzymes in a DMBA-induced breast cancer model.
Neoplasms
Increased expression of the MGMT repair protein mediated by cysteine prodrugs and chemopreventative natural products in human lymphocytes and tumor cell lines.
Neoplasms
Novel methylated DNA markers accurately discriminate Lynch syndrome associated colorectal neoplasia.
Neoplasms
Selective glutathione repletion with oral oxothiazolidine carboxylate (OTZ) in the radiated tumor-bearing rat.
Neoplasms
Sensitization effect of L-2-oxothiazolidine-4-carboxylate on tumor cells to melphalan and the role of 5-oxo-L-prolinase in glutathione modulation in tumor cells.
Sepsis
Acetaminophen Use Concomitant with Long-Lasting Flucloxacillin Therapy: A Dangerous Combination.
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