levoleucovorin and Malabsorption-Syndromes

Topics: Female; Folic Acid Deficiency; Follow-Up Studies; Humans; Infant; Leucovorin; Malabsorption Syndromes

Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary folate malabsorption is treated with folinic acid, aimed to restore blood and cerebrospinal fluid folate levels. Little is known as to whether oral or intramuscular supplementation of folinic acid is most effective.. Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including failure to thrive, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing bilateral occipital, cortical calcifications characteristic of hereditary folate malabsorption. We compared the effect of treatment with oral folinic acid versus intramuscular folinic acid supplementation by measuring plasma and cerebrospinal fluid folate levels.. Compared with oral administration, intramuscular treatment resulted in higher folate levels in blood and, most importantly, normalization of folate levels in cerebrospinal fluid. Clinically, nearly all systemic and neurological symptoms resolved.. Normal cerebrospinal fluid folate levels can be achieved in individuals with hereditary folate malabsorption with intramuscular (but not with oral) administration of folinic acid.

Topics: Folic Acid Deficiency; Humans; Infant; Injections, Intramuscular; Leucovorin; Malabsorption Syndromes; Male; Vitamin B Complex

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.. 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.. A novel mutation in the SLC46A1 gene was identified, and HFM was diagnosed at 18 months of age.. After the HFM diagnosis, the boy was treated with folinic acid.. Folinic acid supplementation is effective and may offer life-changing therapy for patients with HFM.

Topics: Asian People; China; Folic Acid Deficiency; Humans; Infant; Leucovorin; Malabsorption Syndromes; Male; Mutation; Proton-Coupled Folate Transporter; Vitamin B Complex

We report 2 sequential homozygous mutations in the recently cloned proton-coupled folate transporter (PCFT) gene, resulting in the absence of this protein, in a 27-year-old woman with hereditary folate malabsorption, normal in all respects having completed higher education, who has been treated with parenteral 5-formyltetrahydrofolate since infancy.

Topics: Adult; Blotting, Northern; Blotting, Western; DNA Mutational Analysis; Exons; Female; Folic Acid; Follow-Up Studies; Humans; Infusions, Parenteral; Leucovorin; Malabsorption Syndromes; Membrane Transport Proteins; Mutation; Proton-Coupled Folate Transporter; RNA, Messenger; Vitamin B Complex

Topics: Adult; Anemia, Hypochromic; Arthroplasty, Replacement, Hip; Chronic Disease; Colitis; Drug Therapy, Combination; Epoetin Alfa; Erythropoietin; Ferric Compounds; Folic Acid; Humans; Intestinal Polyps; Leucovorin; Malabsorption Syndromes; Male; Methotrexate; Osteoarthritis, Hip; Preoperative Care; Recombinant Proteins; Rectal Diseases; Remission Induction; Spondylitis, Ankylosing; Time Factors; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Female; Folic Acid; Humans; Infant; Intelligence Tests; Leucovorin; Malabsorption Syndromes; Male

Topics: Adolescent; Female; Folic Acid Deficiency; Humans; Injections, Intramuscular; Leucovorin; Malabsorption Syndromes; Time Factors

Topics: Child; Folic Acid; Humans; Leucovorin; Malabsorption Syndromes; Male; Motor Neurons; Nervous System; Neural Conduction

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant; Injections, Intramuscular; Intestinal Absorption; Leucovorin; Malabsorption Syndromes; Probenecid

Topics: Animal Nutritional Physiological Phenomena; Animals; Body Weight; Fatty Acids, Unsaturated; Feces; Female; Folic Acid; Hemoglobins; Intestinal Absorption; Intestine, Small; Leucovorin; Leukocyte Count; Linoleic Acids; Lipid Metabolism; Malabsorption Syndromes; Organ Size; Oxidation-Reduction; Peroxides; Rats; Reticulocytes; Tetrahydrofolates

Topics: Administration, Oral; Adult; Anemia, Macrocytic; Blood Cell Count; Bone Marrow Cells; Diagnosis, Differential; Erythropoiesis; Female; Folic Acid; Humans; Injections, Intramuscular; Intestinal Absorption; Karyometry; Leucovorin; Malabsorption Syndromes; Metabolic Clearance Rate; Parity; Pregnancy; Pregnancy Complications; Xylose