Hematology · Hematology / Metabolic hematology
Folate malabsorption syndrome
also: Hereditary folate malabsorption
Megaloblastic anemia and neurologic problems from impaired intestinal folate absorption.
- Specialty
- Hematology
- Subspecialty
- Hematology / Metabolic hematology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- SLC46A1
- Alternative names & eponyms
- Hereditary folate malabsorption
Etiology & mechanism
PCFT deficiency.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Folate malabsorption syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Cobalamin C syndrome
developmental delay, megaloblastic anemia
2 shared
Galloway–Mowat syndrome
developmental delay, seizures
2 shared
Hoyeraal–Hreidarsson syndrome
developmental delay, immunodeficiency
2 shared
Hyperinsulinism–hyperammonemia syndrome
developmental delay, seizures
2 shared
NARP syndrome
developmental delay, seizures
2 shared
Neonatal abstinence syndrome
diarrhea, seizures
2 shared
Sotos syndrome
developmental delay, seizures
2 shared
Sturge–Weber syndrome
developmental delay, seizures
2 shared
Timothy syndrome
developmental delay, seizures
1 shared
Acquired immunodeficiency syndrome
diarrhea
Shares genes with
None.
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