Glutathione synthetase deficiency without 5-oxoprolinuria
- Synonyms
- Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Hemolytic anemia
Hemolytic anemia
- MedGen UID: 1916
- Concept ID: C0002878
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Hemolytic anemia
- Abnormality of metabolism/homeostasis
- Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency with 5-oxoprolinuria
- MedGen UID: 97988
- Concept ID: C0398746
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Glyoxalase deficiency
Glyoxalase deficiency
- MedGen UID: 481288
- Concept ID: C3279658
- Finding: Finding
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Glutathione synthetase deficiency with 5-oxoprolinuria
- Abnormality of the genitourinary system
- Increased level of L-pyroglutamic acid in urine
Increased level of L-pyroglutamic acid in urine
- MedGen UID: 1641941
- Concept ID: C4703642
- Finding: Finding
Abnormality of the genitourinary system
- Increased level of L-pyroglutamic acid in urine
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
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