Article (Scientific journals)
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
Moretti, P.; Sahoo, T.; Hyland, K. et al.
2005In Neurology, 64 (6), p. 1088-1090
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Keywords :
Adaptation, Physiological; Autistic Disorder; Cerebral Cortex; Child; Developmental Disabilities; Disease Progression; Female; Folic Acid; Folic Acid Deficiency; Genetic Predisposition to Disease; Humans; Leucovorin; Mental Retardation; Mutation; Recovery of Function; Replication Protein C; Seizures; Tetrahydrofolates; Transcription Factors; Treatment Outcome
Abstract :
[en] The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral Mate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills. Copyright © 2005 by AAN Enterprises, Inc.
Disciplines :
Neurology
Pediatrics
Author, co-author :
Moretti, P.;  Dept. of Molec. and Human Genetics, Baylor College of Medicine, Houston, TX, United States, Department of Neurology, Baylor College of Medicine, Houston, TX, United States
Sahoo, T.;  Dept. of Molec. and Human Genetics, Baylor College of Medicine, Houston, TX, United States
Hyland, K.;  Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, United States
Bottiglieri, T.;  Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, United States
Peters, S.;  Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States
Del Gaudio, D.;  Dept. of Molec. and Human Genetics, Baylor College of Medicine, Houston, TX, United States
Roa, B.;  Dept. of Molec. and Human Genetics, Baylor College of Medicine, Houston, TX, United States
Curry, S.;  Ctr. for Environ. and Genetic Med., Inst. of Biosciences and Technology, TX A M Univ. Syst. Hlth. Sci. Ctr., Houston, TX, United States
Zhu, H.;  Ctr. for Environ. and Genetic Med., Inst. of Biosciences and Technology, TX A M Univ. Syst. Hlth. Sci. Ctr., Houston, TX, United States
Finnell, R. H.;  Ctr. for Environ. and Genetic Med., Inst. of Biosciences and Technology, TX A M Univ. Syst. Hlth. Sci. Ctr., Houston, TX, United States
Neul, J. L.;  Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States
Ramaekers, Vincent ;  Rheinisch - Westfälische Technische Hochschule Aachen - RWTH > Pediatrics > Pediatric Neurology
Blau, N.;  Div. of Clin. Chem. and Biochemistry, University Children's Hospital, Zürich, Switzerland
Bacino, C. A.;  Dept. of Molec. and Human Genetics, Baylor College of Medicine, Houston, TX, United States
Miller, G.;  Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States
Scaglia, F.;  Dept. of Molec. and Human Genetics, Baylor College of Medicine, Houston, TX, United States, Dept. of Molec. and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States
More authors (6 more) Less
Language :
English
Title :
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
Publication date :
22 March 2005
Journal title :
Neurology
ISSN :
0028-3878
eISSN :
1526-632X
Publisher :
Lippincott Williams & Wilkins, United States - Maryland
Volume :
64
Issue :
6
Pages :
1088-1090
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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