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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.
Tan, Jianmin; Li, Xiujuan; Guo, Yi; Xie, Lingling; Wang, Juan; Ma, Jiannan; Jiang, Li.
Afiliación
  • Tan J; Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Medicine (Baltimore) ; 96(50): e8712, 2017 Dec.
Article en En | MEDLINE | ID: mdl-29390264
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.
Asunto(s)

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transportador de Folato Acoplado a Protón / Deficiencia de Ácido Fólico / Síndromes de Malabsorción / Mutación Tipo de estudio: Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: Medicine (Baltimore) Año: 2017 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transportador de Folato Acoplado a Protón / Deficiencia de Ácido Fólico / Síndromes de Malabsorción / Mutación Tipo de estudio: Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: Medicine (Baltimore) Año: 2017 Tipo del documento: Article País de afiliación: China