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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.
A low-protein diet is a diet in which people decrease their intake of protein. A low-protein diet is used as a therapy for inherited metabolic disorders, such as phenylketonuria and homocystinuria , and can also be used to treat kidney or liver disease.
Diffuse alveolar damage (DAD): an acute lung condition with the presence of hyaline membranes. [2] These hyaline membranes are made up of dead cells, surfactant , and proteins. [ 1 ] The hyaline membranes deposit along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.
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 ...
Histamine N-methyltransferase is encoded by a single gene, called HNMT, which has been mapped to chromosome 2 in humans. [5]Three transcript variants have been identified for this gene in humans, which produce different protein isoforms [6] [5] due to alternative splicing, which allows a single gene to code for multiple proteins by including or excluding particular exons of a gene in the final ...
Lung cancer is the second most common type of cancer and leading cause of death in men and women in the United States, it is estimated that there is about 216,000 new cases and 160,000 deaths due to lung cancer. [116] Initiation and progression of lung carcinoma is the result of the interaction between genetic, epigenetic and environmental factors.
Tea and toast syndrome is a form of malnutrition commonly experienced by elderly people who cannot prepare meals and tend to themselves. The term is not intrinsic to tea or bread products only; rather, it describes limited dietary patterns that lead to reduced calories resulting in a deficiency of vitamins and other nutrients.
Most individuals with a fatty-acid metabolism disorder are able to live a normal active life with simple adjustments to diet and medications. If left undiagnosed many complications can arise. When in need of glucose the body of a person with a fatty-acid metabolism disorder will still send fats to the liver. The fats are broken down to fatty acids.