congenital nonspherocytic hemolytic anemia 6

A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression

A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.

Signs and symptoms

• Reduced glutathione synthetase level
• Increased level of L-pyroglutamic acid in urine
• Hemolytic anemia
• Glyoxalase deficiency
• Intellectual disability
• Metabolic acidosis

Also known as: glutathione synthetase deficiency of erythrocytes; glutathione synthetase deficiency without 5-oxoprolinuria