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Down syndrome is a medical condition characterized by an overexpression of cystathionine beta synthase (CBS) and a low level of homocysteine in the blood. It has been speculated that cystathionine beta synthase overexpression could be the major culprit in this disease (along with dysfunctioning of GabaA and Dyrk1a).
Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.
[12] [13] While long COVID is the most prevalent name, the terms long-haul COVID, post-COVID-19 syndrome, post-COVID-19 condition, [1] [14] post-acute sequelae of COVID-19 (PASC), and chronic COVID syndrome are also in use. [5] Long COVID may not be a single disease or syndrome. It could be an umbrella term including permanent organ damage ...
While it is commonly assumed that people either recover or die from infections, long-term symptoms—or sequelae—are a possible outcome as well. [1] Examples include long COVID (post-acute sequelae of SARS-CoV-2 infection, PASC), Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), and post-Ebola virus syndrome. [1]
It is the hallmark symptom of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and common in long COVID and fibromyalgia. [3] [1] PEM is often severe enough to be disabling, and is triggered by ordinary activities that healthy people tolerate. Typically, it begins 12–48 hours after the activity that triggers it, and lasts for days ...
Cystathionine is an intermediate in the synthesis of cysteine from homocysteine. It is produced by the transsulfuration pathway and is converted into cysteine by cystathionine gamma-lyase (CTH). Biosynthetically, cystathionine is generated from homocysteine and serine by cystathionine beta synthase (upper reaction in the diagram below).
Cystathionine beta-lyase (EC 4.4.1.8), also commonly referred to as CBL or β-cystathionase, is an enzyme that primarily catalyzes the following α,β-elimination reaction [1] Reaction catalyzed by cystathionine beta-lyase. Thus, the substrate of this enzyme is L-cystathionine, whereas its 3 products are homocysteine, pyruvate, and ammonia. [2 ...
It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. Hereditary cystathioninuria is associated with the reduced activity of the enzyme cystathionine gamma-lyase. [2] It is considered a biochemical anomaly. This is because it associated with a wide range of diseases and its ...