Hereditary folate malabsorption

Hereditary Folate Malabsorption
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Anemia, Diarrhea, Seizures, Developmental delay
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SLC46A1 gene
Risks	N/A
Diagnosis	Blood test, Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Folate supplementation
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Hereditary Folate Malabsorption is a rare genetic disorder characterized by the body's inability to absorb folate from the diet. This condition is caused by mutations in the SLC46A1 gene, which encodes the proton-coupled folate transporter (PCFT) responsible for the absorption of folate in the small intestine.

Signs and Symptoms

Individuals with hereditary folate malabsorption typically present with symptoms in infancy. Common symptoms include:

• Anemia
• Diarrhea
• Seizures
• Developmental delay
• Failure to thrive

Causes

The condition is caused by mutations in the SLC46A1 gene. This gene provides instructions for making a protein that transports folate across cell membranes. Mutations in this gene disrupt the function of the protein, leading to reduced absorption of folate from the diet.

Diagnosis

Diagnosis of hereditary folate malabsorption is based on clinical evaluation, laboratory tests, and genetic testing. Blood tests may reveal low levels of folate, and genetic testing can identify mutations in the SLC46A1 gene.

Treatment

Treatment involves lifelong folate supplementation to bypass the defective absorption mechanism. High doses of oral folate or intravenous folate may be required to maintain adequate levels in the body.

Prognosis

The prognosis for individuals with hereditary folate malabsorption varies. Early diagnosis and treatment can improve outcomes and prevent complications such as neurological damage.

See Also

• Folate deficiency
• Genetic disorders
• Malabsorption

External Links

• GeneReviews: Hereditary Folate Malabsorption
• Rare Diseases Information Center

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  Autosomal recessive inheritance pattern

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  Bone marrow smear with May-Grünwald–Giemsa staining