Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

Jonna Komulainen-Ebrahim; Eemeli Saastamoinen; Elisa Rahikkala; Heli Helander; Reetta Hinttala; Leila Risteli; Heikki Rantala; Johanna Uusimaa

doi:10.1055/s-0037-1603976

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

Neuropediatrics. 2017 Dec;48(6):467-472. doi: 10.1055/s-0037-1603976. Epub 2017 Jun 30.

Authors

Jonna Komulainen-Ebrahim^{1

2

3

4}, Eemeli Saastamoinen^{2

5}, Elisa Rahikkala^{1

2

6}, Heli Helander^{1

3}, Reetta Hinttala^{1

2

4}, Leila Risteli^{2

7

8}, Heikki Rantala^{1

2

3}, Johanna Uusimaa^{1

2

3

4}

Affiliations

¹ PEDEGO Research Unit (Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology), University of Oulu, Oulu, Finland.
² Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
³ Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.
⁴ Biocenter Oulu, University of Oulu, Oulu, Finland.
⁵ Research Unit of Clinical Neuroscience, Department of Neurology, University of Oulu, Oulu, Finland.
⁶ Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
⁷ Northern Finland Laboratory Centre NordLab, Oulu, Finland.
⁸ Department of Clinical Chemistry, University of Oulu, Oulu, Finland.

PMID: 28666289
DOI: 10.1055/s-0037-1603976

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / deficiency*
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / metabolism
Amino Acid Metabolism, Inborn Errors / complications*
Amino Acid Metabolism, Inborn Errors / genetics*
Amino Acid Metabolism, Inborn Errors / metabolism
Child, Preschool
Diagnosis, Differential
Drug Resistant Epilepsy / etiology*
Drug Resistant Epilepsy / genetics*
Drug Resistant Epilepsy / metabolism
Early Diagnosis
Female
Homocysteine / blood*
Humans
Mutation

Substances

Homocysteine
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
MTR protein, human

Supplementary concepts

Arakawa syndrome 2