Table 4. [Hereditary Folate Malabsorption: Supportive Care]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Folate deficiency	Folate replacement therapy (See Targeted Therapy.)	Infants diagnosed before signs/symptoms appear should be treated immediately to prevent onset of folate deficiency & clinical manifestations.
Anemia/ Thrombocytopenia	Responds rapidly to folate replacement therapy w/hematopoietic response w/in a few days	On very rare occasions when transfusion is required, administer blood products appropriate to the person's immunologic status (e.g., washed packed red blood cells in those w/IgA deficiency). Bleeding complications from thrombocytopenia have not been reported.
Immunodeficiency	Folate replacement therapy will rapidly correct immune deficiencies. The most common infection, Pneumocystis jirovecii pneumonia, is treated w/trimethoprim-sulfamethoxazole.	Because of reports of onset of pneumocystis infection w/initiation of folate therapy, prophylaxis w/trimethoprim-sulfamethoxazole has been used prior to folate treatment. ¹
Developmental delay / Intellectual disability	Developmental services & educational support as needed
Seizures	ASM is administered when seizures occur; per neurologist recommendations.	Once seizures are well controlled & adequate CSF folate levels have been achieved, an attempt can be made to taper & discontinue ASM as guided by neurologist.

Manifestation/Concern

Treatment

Considerations/Other

Folate deficiency

Folate replacement therapy
(See Targeted Therapy.)

Infants diagnosed before signs/symptoms appear should be treated immediately to prevent onset of folate deficiency & clinical manifestations.

Anemia/
Thrombocytopenia

Responds rapidly to folate replacement therapy w/hematopoietic response w/in a few days

On very rare occasions when transfusion is required, administer blood products appropriate to the person's immunologic status (e.g., washed packed red blood cells in those w/IgA deficiency).
Bleeding complications from thrombocytopenia have not been reported.

Immunodeficiency

Folate replacement therapy will rapidly correct immune deficiencies.
The most common infection, Pneumocystis jirovecii pneumonia, is treated w/trimethoprim-sulfamethoxazole.

Because of reports of onset of pneumocystis infection w/initiation of folate therapy, prophylaxis w/trimethoprim-sulfamethoxazole has been used prior to folate treatment. ¹

Developmental delay /
Intellectual disability

Developmental services & educational support as needed

Seizures

ASM is administered when seizures occur; per neurologist recommendations.

Once seizures are well controlled & adequate CSF folate levels have been achieved, an attempt can be made to taper & discontinue ASM as guided by neurologist.

From: Hereditary Folate Malabsorption

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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