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Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. [2] It is an autosomal recessive disease resulting from various mutations of gene CYP19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization ...
Omega−6 and omega−3 eighteen-carbon polyunsaturated fatty acids compete for the same metabolic enzymes, thus the omega−6:omega−3 ratio of ingested fatty acids has significant influence on the ratio and rate of production of eicosanoids, a group of hormones intimately involved in the body's inflammatory and homeostatic processes, which ...
Including both omega-3 and omega-6 fats in your diet may also lower the risk of certain cancers. A study of more than 250,000 participants linked omega-6 fats to a reduced risk of brain, bladder ...
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).
Zinc deficiency is defined either as insufficient zinc to meet the needs of the body, or as a serum zinc level below the normal range. However, since a decrease in the serum concentration is only detectable after long-term or severe depletion, serum zinc is not a reliable biomarker for zinc status. [ 1 ]
Niacin deficiency is a consequence of a diet low in both niacin and the amino acid tryptophan, a precursor for the vitamin. Low plasma tryptophan is a non-specific indicator, meaning it can have other causes. The signs and symptoms of niacin deficiency start to revert within days of oral supplementation with large amounts of the vitamin. [23] [24]
Deficiency in omega−3 fatty acids are very common. The average American has a dietary ratio between omega−6 fatty acids and omega−3 fatty acids of 20:1. When the two EFAs were discovered in 1923, they were designated "vitamin F", but in 1929, research on rats showed that the two EFAs are better classified as fats rather than vitamins. [8]
The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active in this period). They can include failure to gain weight and grow at the expected rate ( failure to thrive ); diarrhea; abnormal spiny red blood cells ( acanthocytosis ); and fatty, foul-smelling stools ( steatorrhea ...
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