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HEREDITARY FOLATE-MALABSORPTION

  • Hereditary folate malabsorption
  • Medical condition

    Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter

    Hereditary folate malabsorption

    Hereditary folate malabsorption

    Hereditary_folate_malabsorption

  • Folate deficiency
  • Abnormally low level of folate (vitamin B9) in the body

    proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular

    Folate deficiency

    Folate deficiency

    Folate_deficiency

  • Cerebral folate deficiency
  • 5-MTHF deficiency in the brain

    proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular

    Cerebral folate deficiency

    Cerebral folate deficiency

    Cerebral_folate_deficiency

  • Proton-coupled folate transporter
  • Mammalian protein found in Homo sapiens

    autosomal hereditary disorder, hereditary folate malabsorption (HFM). These subjects have two major abnormalities: (i) severe systemic folate deficiency

    Proton-coupled folate transporter

    Proton-coupled folate transporter

    Proton-coupled_folate_transporter

  • Malabsorption
  • Abnormality in absorption of food nutrients across the gastrointestinal tract

    Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single

    Malabsorption

    Malabsorption

    Malabsorption

  • Major facilitator superfamily
  • Protein family

    2006). "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption". Cell. 127 (5): 917–28. doi:10.1016/j

    Major facilitator superfamily

    Major facilitator superfamily

    Major_facilitator_superfamily

  • May–Grünwald stain
  • Hiroya; Azuma, Hiroshi (30 June 2022). "An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report"

    May–Grünwald stain

    May–Grünwald stain

    May–Grünwald_stain

  • Macrocytosis
  • Medical condition

    of vitamin B12 or folate Poor dietary intake, including due to strict veganism Increased requirements Pernicious anemia Malabsorption syndromes Alcoholism

    Macrocytosis

    Macrocytosis

    Macrocytosis

  • Small intestinal bacterial overgrowth
  • Medical condition

    develop complications as a result of malabsorption of nutrients. Blood tests may show increased level of folate (vitamin B9). Less commonly, there may

    Small intestinal bacterial overgrowth

    Small intestinal bacterial overgrowth

    Small_intestinal_bacterial_overgrowth

  • Coeliac disease
  • Autoimmune disorder

    maldigestion, and malabsorption, leading to nutritional deficiencies. Common deficiencies in coeliac disease include iron, folate, zinc, vitamin D, and

    Coeliac disease

    Coeliac disease

    Coeliac_disease

  • Megaloblastic anemia
  • Medical condition

    instances). Folate deficiency: Alcoholism Deficient intake Increased needs: pregnancy, infant, rapid cellular proliferation, and cirrhosis Malabsorption (congenital

    Megaloblastic anemia

    Megaloblastic anemia

    Megaloblastic_anemia

  • Tropical sprue
  • Medical condition

    Tropical sprue is a malabsorption disease commonly found in tropical regions, marked with abnormal flattening of the villi and inflammation of the lining

    Tropical sprue

    Tropical_sprue

  • Vitamin B12
  • Class of vitamins

    movements and hypotonia. Vitamin B12 deficiency is most commonly caused by malabsorption, but can also result from low intake, immune gastritis, low presence

    Vitamin B12

    Vitamin B12

    Vitamin_B12

  • Irritable bowel syndrome
  • Functional gastrointestinal disorder

    disease, microscopic colitis, inflammatory bowel disease, bile acid malabsorption, and colon cancer. Treatment for IBS aims to improve symptoms. This

    Irritable bowel syndrome

    Irritable bowel syndrome

    Irritable_bowel_syndrome

  • Intrinsic factor
  • Glycoprotein produced in the stomach which binds to vitamin B12

    or parietal cells themselves lead to an intrinsic factor deficiency, malabsorption of vitamin B12, and subsequent megaloblastic anemia. Atrophic gastritis

    Intrinsic factor

    Intrinsic factor

    Intrinsic_factor

  • HFM
  • Topics referred to by the same term

    disease Henry Ford Museum, in Dearborn, Michigan, United States Hereditary folate malabsorption Hi Fly Malta, a Maltese airline Hiroshima FM, a radio station

    HFM

    HFM

  • Gastrointestinal disease
  • Illnesses of the digestive system

    around the mouth. Several GI diseases, especially those associated with malabsorption, can cause recurrent mouth ulcers, atrophic glossitis, and angular cheilitis

    Gastrointestinal disease

    Gastrointestinal disease

    Gastrointestinal_disease

  • Haem carrier protein 1
  • proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular

    Haem carrier protein 1

    Haem_carrier_protein_1

  • Gastroparesis
  • Medical condition

    gastric emptying. Minerals like iron, fat-soluble vitamins, thiamine, and folate are commonly reported deficiencies. Iron deficiency is common in patients

    Gastroparesis

    Gastroparesis

    Gastroparesis

  • Blind loop syndrome
  • Medical condition

    of the malabsorption associated with blind loop syndrome patients with advanced cases should be investigated for: Vitamin B12 deficiency Folate deficiency

    Blind loop syndrome

    Blind loop syndrome

    Blind_loop_syndrome

  • Crohn's disease
  • Type of inflammatory bowel disease

    angular cheilitis or glossitis, are also common due to nutritional malabsorption. People with Crohn's disease are also susceptible to angular stomatitis

    Crohn's disease

    Crohn's disease

    Crohn's_disease

  • Management of ulcerative colitis
  • Medical intervention

    sulfasalazine require folic supplementation (1 mg/day) because it inhibits folate absorption. If oral Mesalazine is still not working, prednisone is often

    Management of ulcerative colitis

    Management_of_ulcerative_colitis

  • Angular cheilitis
  • Cheilitis characterized by inflammation of one or both of the corners of the mouth

    deficiency anemia), which in turn may be evidence of malnutrition or malabsorption. Angular cheilitis can be a manifestation of contact dermatitis, which

    Angular cheilitis

    Angular cheilitis

    Angular_cheilitis

  • List of hematologic conditions
  • (May 19, 2006). "Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)". Orphanet J Rare Dis. 1: 17. doi:10.1186/1750-1172-1-17

    List of hematologic conditions

    List_of_hematologic_conditions

  • Gallstone
  • Disease where stones form in the gallbladder

    has been associated with an increased risk of gallstones. Bile acid malabsorption may also be a risk. Cholesterol gallstones develop when bile contains

    Gallstone

    Gallstone

    Gallstone

  • Exocrine pancreatic insufficiency
  • Inability to properly digest food due to a lack of digestive enzymes from the pancreas

    Bloating Diarrhea Anemia (vitamin B12, iron, folate deficiency) Bleeding disorders (vitamin K malabsorption) Ecchymoses (a type of bruise, due to vitamin

    Exocrine pancreatic insufficiency

    Exocrine pancreatic insufficiency

    Exocrine_pancreatic_insufficiency

  • Ulcerative colitis
  • Inflammatory bowel disease that causes ulcers in the colon

    or sulfasalazine, which can result in folate deficiency. Thiopurine metabolites (from azathioprine) and a folate level can help. UC may cause high levels

    Ulcerative colitis

    Ulcerative colitis

    Ulcerative_colitis

  • Achlorhydria
  • Pathologic lack of stomach acid production

    loss diarrhea constipation abdominal bloating anemia stomach infection malabsorption of food carcinoma of stomach Since acidic pH facilitates iron absorption

    Achlorhydria

    Achlorhydria

    Achlorhydria

  • Gluten-sensitive enteropathy–associated conditions
  • Medical conditions

    amineralosis and anemia. Reduced iron and the lack of vitamins folate, B6, B12 and malabsorption of essential fatty acids can cause depression and chronic

    Gluten-sensitive enteropathy–associated conditions

    Gluten-sensitive_enteropathy–associated_conditions

  • Alcoholic liver disease
  • Medical condition

    bilirubin levels. Folate level is reduced in alcoholic patients due to decreased intestinal absorption, increased bone marrow requirement for folate in the presence

    Alcoholic liver disease

    Alcoholic liver disease

    Alcoholic_liver_disease

  • Cirrhosis
  • Chronic disease of the liver, characterized by fibrosis

    multifactorial, is due to alcoholic marrow suppression, sepsis, lack of folate, platelet sequestering in the spleen, and decreased thrombopoietin. However

    Cirrhosis

    Cirrhosis

    Cirrhosis

  • Blood in stool
  • Medical condition of blood in the feces

    in the stool, vitamins that are important for red blood cell formation (folate, vitamin B12, and vitamin C) are frequently prescribed in order to ensure

    Blood in stool

    Blood in stool

    Blood_in_stool

  • Stomatitis
  • Inflammation of the mouth and lips

    -ῖτις (-itis) 'inflammation'. Malnutrition (improper dietary intake) or malabsorption (poor absorption of nutrients into the body) can lead to nutritional

    Stomatitis

    Stomatitis

    Stomatitis

  • Glossitis
  • Medical condition

    infection. Many conditions can cause glossitis via malnutrition or malabsorption, which creates the nutritional deficiencies described above, although

    Glossitis

    Glossitis

    Glossitis

  • Human nutrition
  • Nutrients supporting human health

    intake, frequent medication use, gastrointestinal malabsorption, and occult bleeding. Malabsorption can also result in excessive iron accumulation, further

    Human nutrition

    Human nutrition

    Human_nutrition

  • Aphthous stomatitis
  • Medical condition of benign mouth ulcers forming periodically

    stomatitis is probably related to nutritional deficiencies caused by malabsorption. Less than 5% of people with RAS have celiac disease, which can present

    Aphthous stomatitis

    Aphthous stomatitis

    Aphthous_stomatitis

  • List of OMIM disorder codes
  • type; 607341; TSC1 Focal dermal hypoplasia; 305600; PORCN Folate malabsorption, hereditary; 229050; SLC46A1 Follicle-stimulating hormone deficiency, isolated;

    List of OMIM disorder codes

    List_of_OMIM_disorder_codes

  • List of pathology mnemonics
  • Chronic disease Destruction (hemolysis) ANEMIA: Anemia of chronic disease No folate or B12 Ethanol Marrow failure & hemaglobinopathies Iron deficient Acute

    List of pathology mnemonics

    List_of_pathology_mnemonics

  • List of medical mnemonics
  • Respiratory(suppurative lung disease) Down syndrome Hereditary Environmental (postirradiation, postinfectious) IUGR GI (malabsorption) Heart (congenital heart disease)

    List of medical mnemonics

    List_of_medical_mnemonics

  • Index of oncology articles
  • Fluoroscope – Fluoroscopy – Fluorouracil – Fluoxetine – Flutamide – FOBT – Folate – Folate antagonist – FOLFOX – Folic acid – Follicular large cell lymphoma –

    Index of oncology articles

    Index_of_oncology_articles

  • Enzyme
  • Large biological molecule that acts as a catalyst

    Pohl D, Frühauf H, Fried M, Vavricka SR, Fox M (June 2013). "Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment". United European

    Enzyme

    Enzyme

    Enzyme

  • Lead poisoning
  • Poisoning caused by lead in the body

    conditions, such as megaloblastic anemia caused by vitamin B12 (cobalamin) and folate deficiencies. Contrary to other sideroblastic anemias, there are no ring

    Lead poisoning

    Lead poisoning

    Lead_poisoning

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