A Case of Methylenetetrahydrofolate Reductase Deficiency with Suspected Early-onset Dementia Associated with Hyperhomocysteinemia Due to Reduced Folate| Abstract
ISSN: 2161-0460

Journal of Alzheimers Disease & Parkinsonism
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  • Case Report   
  • J Alzheimers Dis Parkinsonism 2019, Vol 9(3): 467
  • DOI: 10.4172/2161-0460.1000467

A Case of Methylenetetrahydrofolate Reductase Deficiency with Suspected Early-onset Dementia Associated with Hyperhomocysteinemia Due to Reduced Folate

Kyoko Katsumura1*, Michiho Sodenaga1, Seiya Miyamoto3, Ouga Sasaki5, Tomoko Akiyama4, Osuke Migita2, Koji Hori1, and Hiroki Kocha1
1Department of Neuropsychiatry, St. Marianna University School of Medicine, Kawasaki, Japan
2Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan
3Sakuragaoka Memorial Hospital, Tama, Japan
4Akiyama Neurosurgery Hospital, Yokohama, Japan
5Okayama Psychiatric Medical Center, Okayama, Japan
6Died 8 April 2019, Japan
*Corresponding Author : Kyoko Katsumura, Department of Neuropsychiatry, St. Marianna University School of Medicine 2-16-1 Sugao, Miyamae-ku, Kawasaki City Kanagawa, Japan, Tel: +81-44-977-8111, Fax: +81-44-976-3341, Email: [email protected]

Received Date: May 24, 2019 / Accepted Date: Jun 05, 2019 / Published Date: Jun 12, 2019


A 46-year-old woman was admitted for suspected early-onset dementia. At the age of 20 years, she presented with seizures. She was subsequently diagnosed with major depressive disorder and schizophrenia. At age 43, she developed muscular hypotonia and gait disturbance. Three years later, on admission, laboratory studies showed marked hyperhomocysteinemia, hypomethioninemia, and decreased folate level. Brain magnetic resonance imaging revealed multiple cerebral infarction. She received supplements with folate and vitamin B6. After the treatment, serum homocysteine level was reduced but serum folate level was elevated above normal. A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was considered, so we changed folate to betaine. Sequence analysis of the MTHFR gene demonstrated a missense c.677C>T (p.Ala222Val) mutation. Treatment with betaine resulted in reducing the folic acid level to normal and physical rehabilitation improved the muscular hypotonia. However, psychiatric symptoms such as cognitive impairment and depressive symptoms did not improve during the disease course. This case suggests that measurement of serum levels of homocysteine, methionine, and folate may be useful for identifying the cause of unexplained adult-onset epilepsy, progressive neurological distress, and early-onset multiple cerebral infarction

Keywords: Methylenetetrahydrofolate reductase deficiency; Hyperhomocysteinemia; Multiple cerebral infarction; Betaine; Early-onset dementia

Citation: Katsumura K, Sodenaga M, Miyamoto S, Sasaki O, Akiyama T, et al. (2019) A Case of Methylenetetrahydrofolate Reductase Deficiency with Suspected Early-onset Dementia Associated with Hyperhomocysteinemia Due to Reduced Folate. J Alzheimers Dis Parkinsonism 9:467. Doi: 10.4172/2161-0460.1000467

Copyright: © 2019 Katsumura K, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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