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Journal of Child Neurology
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Neurological Manifestations of Folate Transport Defect: Case Report and Review of the Literature

Yael Sofer, MD

Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva, soferyael{at}yahoo.com

Liora Harel, MD

Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva

Mohamad Sharkia, MD, Pharm

Primary Pediatric Ambulatory Clinic, General Health Services, Jatt, Israel

Jacob Amir, MD

Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikva

Tommy Schoenfeld, MD

Intensive Care Unit Schneider Children's Medical Center of Israel, Petach Tikva and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Rachel Straussberg, MD

Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva

Folate is essential for normal brain development. This report describes a 15-month-old boy who presented with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood (1.13 nmol/L) and cerebrospinal fluid, accompanied by pancytopenia. Bone marrow aspiration confirmed the presence of megaloblastic anemia. Treatment with high-dose intravenous folinic acid led to normalization of cerebrospinal folate levels. These findings apparently indicate a defect in folic acid transport to the central nervous system. A clinical picture of developmental arrest, seizures, somnolence, and megaloblastic anemia should alert physicians to the possibility of folate deficiency.

Key Words: folate • hereditary folate malabsorption

Journal of Child Neurology, Vol. 22, No. 6, 783-786 (2007)
DOI: 10.1177/0883073807304004
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I. Lasry, B. Berman, R. Straussberg, Y. Sofer, H. Bessler, M. Sharkia, F. Glaser, G. Jansen, S. Drori, and Y. G. Assaraf
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
Blood, September 1, 2008; 112(5): 2055 - 2061.
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