• Jianmin Tan, Xiujuan Li, Yi Guo, Lingling Xie, Juan Wang, Jiannan Ma, and Li Jiang.
• Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.
• Medicine (Baltimore). 2017 Dec 1; 96 (50): e8712e8712.

RationaleHereditary 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 ConcernsFrom early infancy, a Chinese boy had experienced macrocytic anemia, leukopenia, thrombocytopenia, recurrent pneumonia, diarrhea, and mouth ulcers. He also presented with progressive neurological symptoms.DiagnosisA novel mutation in the SLC46A1 gene was identified, and HFM was diagnosed at 18 months of age.InterventionsAfter the HFM diagnosis, the boy was treated with folinic acid.LessonsFolinic acid supplementation is effective and may offer life-changing therapy for patients with HFM.Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

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