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Results 1 - 9 of 9 for Cholecalciferol OR Thiamine OR Copper OR "ALPHA-TOCOPHEROL" OR Folic Acid OR Iron OR Pyridoxine OR Docusate OR ascorbic acid OR Iodine OR Zinc OR DOCONEXENT OR Riboflavin OR calcium OR Niacinamide OR ICOSAPENT
  1. Hereditary folate malabsorption 
    ... Congenital defect of folate absorption Congenital folate malabsorption Folic acid transport defect Genetic Testing Registry: Congenital defect of ... K, Dlamini JC, Ivashkin V. The Concept of Folic Acid in Health and Disease. Molecules. 2021 Jun 18; ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  2. Homocystinuria 
    ... to have shortages (deficiencies) of vitamin B12 and folic acid. Cystathionine beta synthase deficiency Homocysteinemia Genetic Testing Registry: ... classical homocystinuria at risk of vitamin B12 and folic acid deficiency? Mol Genet Metab. 2007 Sep-Oct;92( ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  3. Spina bifida 
    ... have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get ... a.32937. No abstract available. Citation on PubMed Folic acid for the prevention of neural tube defects. American ...
    https://medlineplus.gov/genetics/condition/spina-bifida - Genetics
  4. Anencephaly 
    ... have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get ...
    https://medlineplus.gov/genetics/condition/anencephaly - Genetics
  5. Thiamine-responsive megaloblastic anemia syndrome 
    ... to the production of an abnormally short, nonfunctional thiamine transporter 1. Other mutations change single protein building blocks (amino acids) in this protein. All of these mutations prevent ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
  6. Amish lethal microcephaly 
    ... the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine ... block (amino acid) alanine is substituted for the amino acid glycine ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  7. Maple syrup urine disease 
    Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  8. Wilson disease 
    ... tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people ...
    https://medlineplus.gov/genetics/condition/wilson-disease - Genetics
  9. Cutis laxa 
    ... the formation of the protein building block (amino acid) proline, which is a key component of elastic ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics