Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.
A 16-year-old Japanese girl with 5,10-methylenetetrahydrofolate reductase deficiency showed peripheral neuropathy. There were no significant responses to vitamin B6, vitamin B12 or folate, given alone or in combination. With the addition of betaine monohydrate, she has been free from gait disturbance and muscle weakness. The concentration of S-adenosylmethionine in cerebrospinal fluid, which was undetectable before receiving betaine monohydrate, increased to about the normal level 24 months after treatment with betaine monohydrate.
Kishi
T
T
Department of Pediatrics, Hiroshima University School of Medicine, Japan.
Kawamura
I
I
Harada
Y
Y
Eguchi
T
T
Sakura
N
N
Ueda
K
K
Narisawa
K
K
Rosenblatt
D S
DS
D000293:Adolescent; D001622:Betaine / Q000494:pharmacology* / Q000627:therapeutic use; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D010523:Peripheral Nervous System Diseases / Q000134:cerebrospinal fluid* / Q000188:drug therapy; D012436:S-Adenosylmethionine / Q000134:cerebrospinal fluid*
D001622:Betaine; D012436:S-Adenosylmethionine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)