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Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood.Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
Arginine:glycine amidinotransferase deficiency or AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine amidinotransferase. This enzyme deficiency results in decreased creatine synthesis, and is caused by biallelic pathogenic variants in GATM .
Deficiency of arginine and ornithine restricts the function of the urea cycle and leads to hyperammonemia after protein-rich meals. Deficiency of lysine may play a major role in the skeletal and immunological abnormalities observed in LPI patients.
Central DI (CDI), also known as arginine vasopressin deficiency (AVP-D), [5] is due to a lack of vasopressin (antidiuretic hormone) production. [1] This can be due to injury to the hypothalamus or pituitary gland or due to genetics. [1]
In 2000, The American Journal of Human Genetics reported two female siblings, aged 4 and 6 years, with intellectual disability and severe creatine deficiency in the brain. [11] Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for ...
If you suspect you may have a biotin deficiency, here are some of the common symptoms worth ... The latter is a genetic condition that impacts how the body breaks down certain amino acids, causing ...
Low testosterone or testosterone deficiency, also known as hypogonadism, is a condition in which patients develop symptoms. ... Low energy is one of the most common symptoms of testosterone ...
Radwah Oda was diagnosed with colon cancer at 30. She shares five symptoms she dismissed, including narrow stools, blood in the stool, pain and fatigue.
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