Juvenile onset central nervous system folate deficiency and rheumatoid arthritis.
Isolated cerebral folate deficiency was detected in a 13-year-old girl with cognitive and motor difficulties and juvenile rheumatoid arthritis. Her serum contains autoantibodies that block membrane-bound folate receptors that are on the choroid plexus and diminish the uptake of folate into the spinal fluid. Whereas her serum folate exceeded 21 ng/mL, her spinal fluid contained 3.2 ng/mL of 5-methyltetrahydrofolate as a consequence of the autoantibodies diminishing the uptake of this folate.
Koenig
Mary Kay
MK
University of Texas Medical School at Houston, TX 77030, USA.
Perez
Maria
M
Rothenberg
Sheldon
S
Butler
Ian J
IJ
D000293:Adolescent; D000342:Affective Symptoms / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D017668:Age of Onset; D001171:Arthritis, Juvenile / Q000150:complications* / Q000503:physiopathology*; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001928:Brain Diseases, Metabolic / Q000150:complications / Q000276:immunology* / Q000503:physiopathology*; D002352:Carrier Proteins / Q000276:immunology; D002831:Choroid Plexus / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D003072:Cognition Disorders / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D058973:Folate Receptors, GPI-Anchored; D005492:Folic Acid / Q000378:metabolism; D005494:Folic Acid Deficiency / Q000150:complications / Q000276:immunology* / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D019957:Motor Skills Disorders / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D011956:Receptors, Cell Surface / Q000276:immunology; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid
D001323:Autoantibodies; D002352:Carrier Proteins; D058973:Folate Receptors, GPI-Anchored; D011956:Receptors, Cell Surface; D013763:Tetrahydrofolates; D005492:Folic Acid; C005984:5-methyltetrahydrofolate