combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired inte

A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23.

Signs and symptoms

• Mild intellectual disability
• Seizure
• Hyperhomocystinemia
• Megaloblastic anemia
• Decreased total lymphocyte count
• Increased circulating lactate dehydrogenase concentration
• Hypoplastic hippocampus
• Decreased circulating immunoglobulin concentration
• Severe combined immunodeficiency
• Pancytopenia

Also known as: CIMAH; MTHFD1 deficiency; methylenetetrahydrofolate dehydrogenase 1 deficiency