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Diamine oxidase (DAO), also known "amine oxidase, copper-containing, 1" (AOC1), formerly called histaminase, [1] is an enzyme (EC 1.4.3.22) involved in the metabolism, oxidation, and inactivation of histamine and other polyamines such as putrescine or spermidine.
Triple-A syndrome is associated with mutations in the AAAS gene which encodes a protein known as ALADIN (ALacrima Achalasia adrenal Insufficiency Neurologic disorder). [10] [11] [12] In 2000, Huebner et al. mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster. [13]
The genetic background of DAO involvement in schizophrenia is highly debated, and no compulsatory evidence has been found for DAO genes being strongly linked to schizophrenia. Although, the G72 gene, which reportedly encodes the D-amino acid oxidase activator, may be involved in the development of schizophrenia.
In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...
The classic triad of symptoms in APS-1 is hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. The majority of APS-1 patients start showing symptoms early in childhood and gradually get worse as they get older. Usually, the first symptom to appear is candidiasis, which usually affects the nails or oral cavity.
Enjoy a classic game of Hearts and watch out for the Queen of Spades!
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
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