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Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. [2] High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.
HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose. [citation needed] Deficiency of hepatic fructose 1,6-biphosphate (FBPase) causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.
Histamine, a biogenic amine found in various food products, is frequently implicated as a potential instigator of a range of health issues. [1] These issues are often collectively referred to under the umbrella term "histamine intolerance", [1] formulated drawing parallels to "lactose intolerance", a condition resulting from lactase enzyme deficiency.
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. The enzyme belongs to the amine oxidase (copper-containing) (AOC) family of amine ...
It has been shown that decreased DAO activity leads to an increase in NMDA activity in the hypothalamus. [1] Inhibition of DAO leads to the increase of D-serine levels which act as agonists at the NMDAR. [8] A study confirmed the increased NMDA activity and showed increased DAO activity in the cerebellum of schizophrenia subjects. [6]
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
The company faces lawsuits from more than 61,000 plaintiffs alleging its talc caused ovarian cancer or mesothelioma, a deadly cancer linked to asbestos exposure. J&J maintains its talc is safe ...
The enzyme, ornithine aminotransferase is coded for by the gene OAT, located at 10q26. OAT deficiency has an increased incidence in Finland, [2] and this population has a common mutation accounting for more than 85% of mutant alleles in this population. It has not been described in any other populations.