In:
Pediatric Blood & Cancer, Wiley, Vol. 62, No. 6 ( 2015-06), p. 1091-1094
Abstract:
Mutations in SLC46A1 result in a defect of the proton coupled folate transporter (PCFT) and are the basis of hereditary folate malabsorption (HFM). Patients with HFM frequently present with neurodevelopmental delay and megaloblastic anemia. Some cases may be complicated by additional lymphopenia and immunodeficiency. We report a patient with a new homozygous mutation in the SLC46A1 gene. The boy presented with early‐onset pancytopenia and secondary immunodeficiency. We provide clinical and molecular observations that extend the phenotypic description of HFM and highlight diagnostic as well as therapeutic pitfalls in this rare condition. Pediatr Blood cancer © 2014 Wiley‐Liss,Inc.
Type of Medium:
Online Resource
ISSN:
1545-5009
,
1545-5017
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2130978-4