Living with Congenital defect of folate absorption
A rare inherited condition where the body cannot absorb folate, a B vitamin, which causes feeding trouble, diarrhea and anemia in infants.
Understanding Congenital defect of folate absorption
Babies are born with normal folate from the placenta, but signs begin in the first few months. They may have feeding difficulties, diarrhea, mouth irritation and slow weight gain. Most develop megaloblastic anemia, and some have low white cells or platelets. Without treatment, nervous system problems can develop.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Megaloblastic anemia (large, fewer red blood cells)
- Feeding difficulties and diarrhea
- Slow weight gain (failure to thrive)
- Mouth and tongue irritation
- Global developmental delay
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, blood and bone marrow specialists, brain and nervous system specialists and digestive system specialists.
- 3Consider genetic testing
Changes in SLC46A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC46A1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital folate malabsorption; congenital malabsorption of folic acid; folate transport defect; folic acid transport defect; hereditary folate malabsorption
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital defect of folate absorption.
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