KEGG   DISEASE: H01252Help
Entry
H01252                      Disease                                

Name
Hereditary folate malabsorption (HFM)
Description
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption. HFM is characterized by anemia, hypoimmunoglobulinemia, and recurrent infections. When diagnosed early, the signs and symptoms can be obviated by high oral doses of folates. Recently, several mutations were identified in the proton-coupled folate transporter (PCFT/SLC46A1) gene from patients with HFM.
Category
Hematologic disease
BRITE hierarchy
Pathway
hsa04977 Vitamin digestion and absorption  
 
Mineral absorption
Gene
SLC46A1 [HSA:113235] [KO:K14613]
Marker
Low folate levels in the blood and cerebrospinal fluid
Drug
Folate [DR:D07985]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID
  Title
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
  Journal
Cell 127:917-28 (2006)
Reference
  Authors
Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG
  Title
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.
  Journal
Blood 112:2055-61 (2008)
Reference
  Authors
Lasry I, Berman B, Glaser F, Jansen G, Assaraf YG
  Title
Hereditary folate malabsorption: a positively charged amino acid at position 113  of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.
  Journal
Biochem Biophys Res Commun 386:426-31 (2009)

» Japanese version

DBGET integrated database retrieval system