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1.

Hyperhomocysteinemia

Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Malinow and Stampfer, 1994). Hyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by Welch and Loscalzo, 1998). Homocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria (236200), due to mutation in the CBS gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250), caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD (277410), and cblF (277380). [from GTR]

MedGen UID:
108623
Concept ID:
C0598608
Disease or Syndrome
2.

KTS; Vascular overgrowth

MedGen UID:
851801
Concept ID:
CN233165
Finding
3.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
4.

Folate

A cofactor for 1-carbon transfer involved with DNA synthesis. [from NCI]

MedGen UID:
59819
Concept ID:
C0178638
Organic Chemical; Pharmacologic Substance; Vitamin
5.

Folitixorin

A folate-based biomodulator with potential antineoplastic activity. 5,10-methylenetetrahydrofolate (MTHF) stabilizes the covalent binding of the fluorouracil metabolite 5-5-fluoro-2'-deoxyuridine-5'-O-monophosphate (FdUMP) to its target enzyme, thymidylate synthase, which results in inhibition of thymidylate synthase, depletion of thymidine triphosphate (TTP), a necessary constituent of DNA, and tumor cell death. Unlike leucovorin, MTHF, as the active form of folate, does not require metabolic activation and may increase the chemotherapeutic effects of fluorouracil with lower toxicity. [from NCI]

MedGen UID:
59057
Concept ID:
C0048858
Organic Chemical; Pharmacologic Substance; Vitamin
6.

Catechol

A chemical originally isolated from a type of mimosa tree. Catechol is used as an astringent, an antiseptic, and in photography, electroplating, and making other chemicals. It can also be man-made. [from NCI_NCI-GLOSS]

MedGen UID:
27059
Concept ID:
C0054858
Organic Chemical; Pharmacologic Substance
7.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Folic acid

A collective term for pteroylglutamic acids and their oligoglutamic acid conjugates. As a natural water-soluble substance, folic acid is involved in carbon transfer reactions of amino acid metabolism, in addition to purine and pyrimidine synthesis, and is essential for hematopoiesis and red blood cell production. (NCI05) [from NCI]

MedGen UID:
8876
Concept ID:
C0016410
Organic Chemical; Pharmacologic Substance; Vitamin
9.

Moderate

Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
525853
Concept ID:
C0205081
Qualitative Concept
10.

Vitamin B12 deficiency

MedGen UID:
506469
Concept ID:
CN117395
Finding
11.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
12.

Methylmalonic acidemia

Isolated methylmalonic acidemia/aciduria, the topic of this GeneReview, is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut(0) enzymatic subtype or mut(–) enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Onset of the manifestations of isolated methylmalonic acidemia/aciduria ranges from the neonatal period to adulthood. All phenotypes are characterized by periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. In the neonatal period the disease can present with lethargy, vomiting, hypotonia, hypothermia, respiratory distress, severe ketoacidosis, hyperammonemia, neutropenia, and thrombocytopenia and can result in death within the first four weeks of life. In the infantile/non-B12-responsive phenotype, infants are normal at birth, but develop lethargy, vomiting, dehydration, failure to thrive, hepatomegaly, hypotonia, and encephalopathy within a few weeks to months of age. An intermediate B12-responsive phenotype can occasionally be observed in neonates, but is usually observed in the first months or years of life; affected children exhibit anorexia, failure to thrive, hypotonia, and developmental delay, and sometimes have protein aversion and/or vomiting and lethargy after protein intake. Atypical and "benign"/adult methylmalonic acidemia phenotypes are associated with increased, albeit mild, urinary excretion of methylmalonate. Major secondary complications of methylmalonic acidemia include: intellectual impairment (variable); tubulointerstitial nephritis with progressive renal failure; “metabolic stroke” (acute and chronic basal ganglia injury) causing a disabling movement disorder with choreoathetosis, dystonia, and para/quadriparesis; pancreatitis; growth failure; functional immune impairment; and optic nerve atrophy. [from GTR]

MedGen UID:
120654
Concept ID:
C0268583
Disease or Syndrome
13.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
14.

Cobalamin deficiency

A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848) [from MeSH]

MedGen UID:
21880
Concept ID:
C0042847
Disease or Syndrome
15.

Vitamin preparation

A group of organic food substances found in animals and plants in small quantities. They must be supplied in diet or dietary supplement and are essential for normal metabolism. [from NCI]

MedGen UID:
12117
Concept ID:
C0042890
Organic Chemical; Pharmacologic Substance; Vitamin
16.

Nutritional disorder

Any condition related to a disturbance between proper intake and utilization of nourishment. [from NCI]

MedGen UID:
811347
Concept ID:
C3714509
Disease or Syndrome
17.

Vitamin deficiency

A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. [from NCI]

MedGen UID:
267607
Concept ID:
C1510471
Disease or Syndrome
18.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
19.

Vegetarian diet

The dietary practice of completely avoiding meat or fish products in the DIET, consuming VEGETABLES, CEREALS, and NUTS. Some vegetarian diets called lacto-ovo also include milk and egg products. [from MeSH]

MedGen UID:
137147
Concept ID:
C0311164
Finding
20.

Senility

MedGen UID:
115903
Concept ID:
C0231337
Finding
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