The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
We report 2 sequential homozygous mutations in the recently cloned proton-coupled folate transporter (PCFT) gene, resulting in the absence of this protein, in a 27-year-old woman with hereditary folate malabsorption, normal in all respects having completed higher education, who has been treated with parenteral 5-formyltetrahydrofolate since infancy.
Min
Sang Hee
SH
Department of Medicine, Albert Einstein College of Medicine, Bronx, NY, USA.
Oh
Sun Young
SY
Karp
George I
GI
Poncz
Mortimer
M
Zhao
Rongbao
R
Goldman
I David
ID
D000328:Adult; D015152:Blotting, Northern; D015153:Blotting, Western; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D005500:Follow-Up Studies; D006801:Humans; D007263:Infusions, Parenteral; D002955:Leucovorin / Q000008:administration & dosage / Q000627:therapeutic use; D008286:Malabsorption Syndromes / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D026901:Membrane Transport Proteins / Q000096:biosynthesis / Q000235:genetics*; D009154:Mutation; D058979:Proton-Coupled Folate Transporter; D012333:RNA, Messenger / Q000235:genetics*; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000627:therapeutic use
D026901:Membrane Transport Proteins; D058979:Proton-Coupled Folate Transporter; D012333:RNA, Messenger; C505058:SLC46A1 protein, human; D014803:Vitamin B Complex; D005492:Folic Acid; D002955:Leucovorin