congenital nonspherocytic hemolytic anemia 7

An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous m

An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1.

Signs and symptoms

• Reduced erythrocyte gamma-glutamyl cysteine synthetase activity
• Hemolytic anemia
• Reticulocytosis
• Increased circulating lactate dehydrogenase concentration
• Late-onset spinocerebellar degeneration
• Elevated urinary gamma-glutamylcysteine level
• Myopathy
• Polyneuropathy

Also known as: gamma-glutamylcysteine synthetase deficiency; hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency