Hereditary folate malabsorption is inherited in an autosomal recessive manner
Specialty
Medical genetics
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter (PCFT) gene, resulting in systemic folate deficiency and impaired delivery of folate to the brain.
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Hereditaryfolatemalabsorption (HFM) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter...
proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditaryfolatemalabsorption". Molecular...
Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single...
diagnosed with cerebral folate deficiency and testing positive for autoantibodies to folate receptor alpha. Hereditaryfolatemalabsorption 5,10-methenyltetrahydrofolate...
disease Henry Ford Museum, in Dearborn, Michigan, United States Hereditaryfolatemalabsorption Hi Fly Malta, a Maltese airline Hiroshima FM, a radio station...
blood donation. Causes of decreased production include iron deficiency, folate deficiency, vitamin B12 deficiency, thalassemia and a number of bone marrow...
2006). "Identification of an intestinal folate transporter and the molecular basis for hereditaryfolatemalabsorption". Cell. 127 (5): 917–28. doi:10.1016/j...
proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditaryfolatemalabsorption". Molecular...
gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. Non-classic...
untreated in infants, deficiency may lead to neurological damage and anemia. Folate levels in the individual may affect the course of pathological changes and...
Tropical sprue is a malabsorption disease commonly found in tropical regions, marked with abnormal flattening of the villi and inflammation of the lining...
around the mouth. Several GI diseases, especially those associated with malabsorption, can cause recurrent mouth ulcers, atrophic glossitis, and angular cheilitis...
complications of their illness as a result of malabsorption of nutrients. Laboratory test results may include elevated folate, and, less commonly, vitamin B12 deficiency...
deficiency anemia), which in turn may be evidence of malnutrition or malabsorption. Angular cheilitis can be a manifestation of contact dermatitis, which...
results in problems, among others, of: vitamin B12 deficiency, fat malabsorption and steatorrhea, fat-soluble vitamin deficiencies and intestinal wall...
bilirubin levels. Folate level is reduced in alcoholic patients due to decreased intestinal absorption, increased bone marrow requirement for folate in the presence...
disease, microscopic colitis, inflammatory bowel disease, bile acid malabsorption, and colon cancer. Treatment of IBS is carried out to improve symptoms...
maldigestion and malabsorption. Other symptoms may include: Abdominal discomfort or pain Bloating Diarrhea anemia (Vitamin B12, iron, folate deficiency) bleeding...
include constipation; eating fewer meals per day; low intake of the nutrients folate, magnesium, calcium, and vitamin C; low fluid consumption; and, at least...
loss diarrhea constipation abdominal bloating anemia stomach infection malabsorption of food carcinoma of stomach Since acidic pH facilitates the absorption...
meaning "inflammation". Malnutrition (improper dietary intake) or malabsorption (poor absorption of nutrients into the body) can lead to nutritional...
stomatitis is probably related to nutritional deficiencies caused by malabsorption. Less than 5% of people with RAS have celiac disease, which usually...
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