Hereditary (congenital) folate malabsorption
Incidence
Described in 13 pts (11/13 girls). AR condition.
Clinical Characteristics
Presents in infancy as severe megaloblastic anemia folate-responsive, mouth ulcers, diarrhea, FTT, progressive neurological deterioration and seizures. They may have ataxia and athetosis. Peripheral neuropathy, responsive to folic acid. Intracranial calcifications in parietal areas and basal ganglia has been reported. Respond to treatment with large dosis of PO or IM folate. Diagnosis is based in low levels of folates in serum and CSF
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Diagnosis is based in low levels of folates in serum and CSF