GTR Home > Conditions/Phenotypes > Congenital defect of folate absorption

Disease characteristics

Excerpted from the GeneReview: Hereditary Folate Malabsorption
Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system (CNS). Findings include poor feeding and failure to thrive, anemia often accompanied by leukopenia and/or thrombocytopenia, diarrhea and/or oral mucositis, hypoimmunoglobulinemia, and other immunologic dysfunction resulting in infections with unusual organisms. Neurologic manifestations include developmental delays, cognitive and motor impairment, behavioral disorders and, frequently, seizures that occur starting in infancy and early childhood.

Available tests

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Associated genes

Clinical features

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  • Irritability
  • Neutropenia
  • Thrombocytopenia
  • Hyperreflexia
  • Recurrent infections
  • Cerebral calcification
  • Hypogammaglobulinemia
  • Intellectual disability
  • Cognitive impairment
  • Amyotrophy
  • Recurrent respiratory infections
  • Seizure
  • Cheilitis
  • Diarrhea
  • Malabsorption
  • Anorexia
  • Failure to thrive
  • Feeding difficulties in infancy
  • Folate-responsive megaloblastic anemia
  • Recurrent urinary tract infections
  • Oral ulcer
  • Glossitis
  • Behavioral abnormality
  • Pallor
  • Ataxia
  • Muscular hypotonia
  • Global developmental delay
  • Abnormality of eosinophils
  • Leukopenia
  • Megaloblastic anemia
  • Nausea and vomiting
  • Basal ganglia calcification
  • Athetosis
  • Bone marrow hypocellularity
  • Peripheral neuropathy
  • Dyskinesia
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