| FOLATE MALABSORPTION | |
| FOLIC ACID, TRANSPORT DEFECT INVOLVING; FOLATE MALABSORPTION | |
|
229050
OMIM = Online Mendelian Inheritance of Men | |
|
90045 | |
| Proton-coupled folate transporter | |
| rare (~37 cases) autosomal recessive mutation in the SLC46A1 gene | |
| Laboratory findings | Folate dec (serum) 5-Methyltetrahydrofolate (5-MTHF) decreased (cerebrospinal fluid) Folate dec (urine) Formiminoglutamic acid (FIGLU) inc (urine) Hemoglobine dec (blood) Homocysteine normal/inc (plasma) Immunglobulin IgD dec (serum) Immunoglobulins normal/dec (serum) Methionine normal/dec (plasma) Orotic acid inc (urine) Sarcosine inc (urine) |
| Symptoms | anemia ataxia athetosis cerebral calcifications diarrhea epilepsy failure to thrive feeding difficulties, poor feeding heart failure, cardiac failure infections (severe or recurrent) irritability megaloblastic anemia mental retardation MRI, brain, abnormalities [-] neutropenia (decreased neutrophils) onset, infancy oral ulcers peripheral neuropathy progressive neurologic defect seizures stomatitis thrombopenia, thrombocytopenia |