hereditary folate malabsorption

A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_ma

A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.

Signs and symptoms

• Recurrent infections
• Decreased circulating folate concentration
• Diarrhea
• Folate-responsive megaloblastic anemia
• Malabsorption
• Seizure
• Hypotonia
• Ataxia
• Generalized hypotonia
• Impaired folate absorption

Also known as: congenital defect of folate absorption; congenital folate malabsorption