Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.
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 folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.
Moretti
P
P
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Sahoo
T
T
Hyland
K
K
Bottiglieri
T
T
Peters
S
S
del Gaudio
D
D
Roa
B
B
Curry
S
S
Zhu
H
H
Finnell
R H
RH
Neul
J L
JL
Ramaekers
V T
VT
Blau
N
N
Bacino
C A
CA
Miller
G
G
Scaglia
F
F
D000222:Adaptation, Physiological / Q000187:drug effects / Q000502:physiology; D001321:Autistic Disorder / Q000134:cerebrospinal fluid / Q000188:drug therapy* / Q000209:etiology; D002540:Cerebral Cortex / Q000187:drug effects* / Q000254:growth & development* / Q000378:metabolism; D002648:Child; D002658:Developmental Disabilities / Q000134:cerebrospinal fluid / Q000188:drug therapy* / Q000209:etiology; D018450:Disease Progression; D005260:Female; D005492:Folic Acid / Q000378:metabolism; D005494:Folic Acid Deficiency / Q000134:cerebrospinal fluid / Q000188:drug therapy* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D002955:Leucovorin / Q000008:administration & dosage*; D009154:Mutation / Q000235:genetics; D020127:Recovery of Function / Q000187:drug effects / Q000502:physiology; D058978:Reduced Folate Carrier Protein / Q000235:genetics; D012640:Seizures / Q000134:cerebrospinal fluid / Q000188:drug therapy* / Q000209:etiology; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome
D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human; D013763:Tetrahydrofolates; D014157:Transcription Factors; D005492:Folic Acid; D002955:Leucovorin; C005984:5-methyltetrahydrofolate