Chapter title |
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.
|
---|---|
Chapter number | 445 |
Book title |
JIMD Reports, Volume 24
|
Published in |
JIMD Reports, May 2015
|
DOI | 10.1007/8904_2015_445 |
Pubmed ID | |
Book ISBNs |
978-3-66-248226-1, 978-3-66-248227-8
|
Authors |
Torres, A, Newton, S A, Crompton, B, Borzutzky, A, Neufeld, E J, Notarangelo, L, Berry, G T, A. Torres, S. A. Newton, B. Crompton, A. Borzutzky, E. J. Neufeld, L. Notarangelo, G. T. Berry, Torres, A., Newton, S. A., Crompton, B., Borzutzky, A., Neufeld, E. J., Notarangelo, L., Berry, G. T. |
Abstract |
Hereditary folate malabsorption is characterized by folate deficiency with impaired folate transport into the central nervous system (CNS). This disease is characterized by megaloblastic anemia of early appearance, combined immunodeficiency, seizures, and cognitive impairment. The anemia and immunologic disease are responsive but neurological signs are refractory to folic-acid treatment. We report a 7-year-old girl who has congenital folate deficiency and SLC46A1 gene mutation who is unable to transport folate from her gut to the circulatory system and consequently from the blood to the cerebrospinal fluid (CSF). As a result she developed undetectable 5-methyltetrahydrofolate levels in her plasma and CSF and became immunocompromised and quite ill. Intramuscular treatment with 5-formyltetrahydrofolate (folinic acid) was therapeutic at her presentation and has been successful preventing other signs and symptoms of hereditary folate malabsorption even at relatively low CSF levels. Although difficult, early detection and diagnosis of cerebral folate deficiency are important because folinic acid at a pharmacologic dose may normalize outcome in PCFT gene defects, as well as bypass autoantibody-blocked folate receptors and enter the cerebrospinal fluid by way of the reduced folate carrier. This route elevates the 5-methyltetrahydrofolate level within the central nervous system and can prevent the neuropsychiatric disorder. CSF levels of 5-methyltetrahydrofolate between 18 and 46 nmol/L may be sufficient to eradicate CNS disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
India | 1 | 4% |
Unknown | 25 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 23% |
Student > Bachelor | 3 | 12% |
Professor | 2 | 8% |
Other | 2 | 8% |
Researcher | 2 | 8% |
Other | 5 | 19% |
Unknown | 6 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 42% |
Agricultural and Biological Sciences | 5 | 19% |
Biochemistry, Genetics and Molecular Biology | 3 | 12% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Unknown | 6 | 23% |