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The distribution of the therapeutic enzyme in the body (biodistribution) after these IV infusions is not uniform. [10] The enzyme in less available to certain areas in the body, like the bones, lungs, brain. For this reason, many symptoms of lysosomal storage diseases remain untreated by ERT, especially neurological symptoms. [10]
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food. [1] [2] [3] Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.
Clinical examination and MRI are often the first steps in an MLD diagnosis. MRI can be indicative of MLD but is not adequate as a confirming test. An ARSA-A enzyme level blood test with a confirming urinary sulfatide test is the best biochemical test for MLD. Urinary sulfatide is important to distinguish between MLD and pseudo-MLD blood results.
The most common treatment is blood transfusions, especially in infants and young children. This is done if the red blood cell count has fallen to a critical level. [11] The transplantation of bone marrow has also been conducted as a treatment option. [9] There is a natural way the body tries to treat this disease.
Phenol sulfur transferase deficiency, in short PST deficiency, is the lack or the reduced activity of the functional enzyme phenol sulfur transferase, which is crucial in the detoxification of mainly phenolic compounds by catalysing the sulfate conjugation of the hydroxyl groups in the toxic phenolic compounds to result in more hydrophilic forms for more efficient excretion.
Muscle pain from MADD is not well understood, but is partially due to high levels of lactate. Increased levels of free adenosine temporarily decrease pain, allowing over-exertion without awareness. [5] The over exertion can cause mild to severe cases of rhabdomyolysis, which is painful. [6] Adenosine mediates pain through adenosine receptors ...
Despite the body’s ability to produce digestive enzymes, research has shown the market for these products is booming, estimated at nearly $700 million in 2021 and expected to hit $1.6 billion by ...
This enzyme converts the S-adenosyl homocysteine into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine. A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia. [citation needed]