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Refsum disease is an autosomal recessive [5] neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). [6] [7] Refsum disease typically is adolescent onset and is diagnosed by above average levels of ...
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
This is commonly believed to be the reason why modern diets are correlated with many inflammatory disorders. [37] While omega−3 polyunsaturated fatty acids may be beneficial in preventing heart disease in humans, the level of omega−6 polyunsaturated fatty acids (and, therefore, the ratio) does not matter. [33] [39]
An underlying disorder can have 2 main causes: Metabolic causes: Genetic defects in enzymes (e.g. kynureninase) involved in the kynurenine pathway of synthesis of niacin from tryptophan can lead to pellagra (niacin deficiency). [1] Lifestyle choices: Lifestyle choices and habits that increase vitamin needs, such as smoking or drinking alcohol. [2]
Mapping of several bone diseases onto levels of vitamin D (calcidiol) in the blood [6] Normal bone vs. osteoporosis. Vitamin D deficiency is typically diagnosed by measuring the concentration of the 25-hydroxyvitamin D in the blood, which is the most accurate measure of stores of vitamin D in the body.
One important note: Excess biotin can also "cause incorrect results in certain laboratory tests that look at thyroid levels and blood markers that can help diagnose heart attacks," says Dr. Castillo.
The term fatty acid oxidation disorder (FAOD) is sometimes used, especially when there is an emphasis on the oxidation of the fatty acid. [3] In addition to the fetal complications, they can also cause complications for the mother during pregnancy. [4] Examples include: Mitochondrial trifunctional protein deficiency (MTPD) [3] MCADD, LCHADD ...
Phosphofructokinase deficiency; Other names: Glycogen storage disease type VII or Tarui's disease [1] [2] A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. [3] The symmetry of the enzyme is a result of its tetrameric structure. Specialty: Endocrinology ...