Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report

RATIONALE: Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent infections, and neurological deficits. The neurological manifestations include progressive psychomotor retardation, behavioral disorders, and early-onset seizures. PATIENT CONCERNS: From early infancy, a Chinese boy had experienced macrocytic anemia, leukopenia, thrombocytopenia, recurrent pneumonia, diarrhea, and mouth ulcers. He also presented with progressive neurological symptoms. DIAGNOSIS: A novel mutation in the SLC46A1 gene was identified, and HFM was diagnosed at 18 months of age. INTERVENTIONS: After the HFM diagnosis, the boy was treated with folinic acid. LESSONS: Folinic acid supplementation is effective and may offer life-changing therapy for patients with HFM.