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Results: 11

1.

Folate

Class of water-soluble vitamins that are coenzymes in single-carbon transfers in the metabolism of nucleic and amino acids. (DRI) [from NCI]

MedGen UID:
59819
Concept ID:
C0178638
Pharmacologic Substance
2.

Congenital defect of folate absorption

Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system (CNS). Findings include poor feeding and failure to thrive, anemia often accompanied by leukopenia and/or thrombocytopenia, diarrhea and/or oral mucositis, hypoimmunoglobulinemia, and other immunologic dysfunction resulting in infections with unusual organisms. Neurologic manifestations include developmental delays, cognitive and motor impairment, behavioral disorders and, frequently, seizures. [from GeneReviews]

MedGen UID:
83348
Concept ID:
C0342705
Disease or Syndrome
3.

Vitamins

Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are vitamins A, C, D, E, K and the B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate). You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. . Each vitamin has specific jobs. If you have low levels of certain vitamins, you may develop a deficiency disease. For example, if you don't get enough vitamin D, you could develop rickets. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take a daily multivitamin for optimal health. However, high doses of some vitamins can make you sick.  [from MedlinePlus]

MedGen UID:
12117
Concept ID:
C0042890
Pharmacologic Substance
4.

Methionine

a kind of amino acid [from CHV]

MedGen UID:
9989
Concept ID:
C0025646
Pharmacologic Substance
5.

Malabsorption

Inadequate absorption of nutrients in the small intestine. [from NCI]

MedGen UID:
811453
Concept ID:
C3714745
Finding
6.

Consideration

Careful thought or deliberation. [from NCI]

MedGen UID:
810608
Concept ID:
C0518609
Finding
7.

Malabsorption

MedGen UID:
368423
Concept ID:
C1963165
Finding
8.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
9.

Folacin

folate and its derivatives. [from CRISP]

MedGen UID:
152036
Concept ID:
C0699376
Pharmacologic Substance
10.

Folic Acid

Folic acid is a B vitamin. It helps the body make healthy new cells. Everyone needs folic acid. For women who may get pregnant, it is really important. When a woman has enough folic acid in her body before and during pregnancy, it can prevent major birth defects of her baby's brain or spine. . Foods with folic acid in them include leafy green vegetables, fruits, dried beans, peas and nuts. Enriched breads, cereals and other grain products also contain folic acid. If you don't get enough folic acid from the foods you eat, you can also take it as a dietary supplement. NIH: National Institutes of Health Office of Dietary Supplements.  [from MedlinePlus]

MedGen UID:
8876
Concept ID:
C0016410
Pharmacologic Substance
11.

Disorder of folate metabolism and transport

MedGen UID:
832446
Concept ID:
CN227114
Disease or Syndrome

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