Treatment with mefolinate (5-methyltetrahydrofolate), but not folic acid or folinic acid, leads to measurable 5-methyltetrahydrofolate in cerebrospinal fluid in …
L Knowles, AAM Morris, JH Walter - JIMD Reports, Volume 29, 2016 - Springer
S-adenosyl methionine, which is formed from methionine, is an essential methyl donor
within the central nervous system. Methionine is formed by the enzyme methionine synthase …
within the central nervous system. Methionine is formed by the enzyme methionine synthase …
5, 10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination
Folate metabolism in the brain is critically important and serves a number of vital roles in
nucleotide synthesis, single carbon metabolism/methylation, amino acid metabolism, and …
nucleotide synthesis, single carbon metabolism/methylation, amino acid metabolism, and …
[HTML][HTML] Phoenix from the ashes: Dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision
AS Biesalski, S Hoffjan, R Schneider, HP Nguyen… - Journal of …, 2022 - Springer
Severe methyltetrahydrofolate (MTHFR) deficiency is a rare autosomal recessive
demyelinating disease with a wide range of neurological symptoms [1]. MTHFR plays an …
demyelinating disease with a wide range of neurological symptoms [1]. MTHFR plays an …
Prevention of brain disease from severe 5, 10-methylenetetrahydrofolate reductase deficiency
KA Strauss, DH Morton, EG Puffenberger… - Molecular genetics and …, 2007 - Elsevier
Over a four-year period, we collected clinical and biochemical data from five Amish children
who were homozygous for missense mutations in 5, 10-methylenetetrahydrofolate reductase …
who were homozygous for missense mutations in 5, 10-methylenetetrahydrofolate reductase …
Measurement of 5-methyltetrahydrofolate in cerebrospinal fluid using HPLC with coulometric electrochemical detection
K Hyland, R Surtees - Pteridines, 1991 - degruyter.com
Investigation of inborn errors affecting folate metabolism have demonstrated that a chronic,
severe central nervous system deficiency of 5-methyltetrahydrofolate (5MTHF) leads to …
severe central nervous system deficiency of 5-methyltetrahydrofolate (5MTHF) leads to …
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
N Abeling, AH Van Gennip, H Blom… - Journal of inherited …, 1999 - search.proquest.com
METHODS Free amino acids in urine and plasma were measured using a Beckman 7300
amino acid analyser. Total homocysteine was determined in plasma by a HPLC-method …
amino acid analyser. Total homocysteine was determined in plasma by a HPLC-method …
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population
A Ormazabal, A García-Cazorla, B Pérez-Dueñas… - Clinica chimica acta, 2006 - Elsevier
BACKGROUND: Cerebral folate deficiency (CFD) has been described as a neurological
syndrome associated with low 5-methyltetrahydrofolate (5-MTHF) values in cerebrospinal …
syndrome associated with low 5-methyltetrahydrofolate (5-MTHF) values in cerebrospinal …
An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait
AA Al Tawari, DG Ramadan, D Neubauer… - Brain and …, 2002 - Elsevier
Methylenetetrahydrofolate reductase deficiency (MTHFR) is a rare autosomal recessive
disorder. There have been 68 cases reported to date in the literature [Eur J Pediatr 1998; …
disorder. There have been 68 cases reported to date in the literature [Eur J Pediatr 1998; …
5, 10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant
M Tsuji, A Takagi, K Sameshima, M Iai… - Brain and …, 2011 - Elsevier
5, 10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most prevalent inborn
error of folate metabolism, and has variable clinical manifestations from asymptomatic to …
error of folate metabolism, and has variable clinical manifestations from asymptomatic to …
Quantitation of 5-methyltetrahydrofolate in cerebrospinal fluid using liquid chromatography-electrospray tandem mass spectrometry
E Arning, T Bottiglieri - Clinical Applications of Mass Spectrometry in …, 2016 - Springer
We describe a simple stable isotope dilution method for accurate and precise measurement
of cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF) as a clinical diagnostic test. 5 …
of cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF) as a clinical diagnostic test. 5 …