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Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels.
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. [2] Phenylalanine concentrations are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few ...
Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems. In healthy individuals, it is metabolised ...
jwdogtraining. Sniffing can help reactive dogs calm down 💆🏼♀️. If we don’t want barking and lunging, then we have to teach our dog what we DO want in the presence of a trigger. We ...
Canine epileptoid cramping syndrome. Canine epileptoid cramping syndrome (CECS), previously known as Spike's Disease, is a hereditary dog disease initially found in Border Terriers and has since been documented in many other dog breeds including Labrador Retrievers and Chihuahuas, with similarities to canine epilepsy. Its cause is unknown. [1]
A common example of pleiotropy is the human disease phenylketonuria (PKU). This disease causes mental retardation and reduced hair and skin pigmentation , and can be caused by any of a large number of mutations in the single gene on chromosome 12 that codes for the enzyme phenylalanine hydroxylase , which converts the amino acid phenylalanine ...
Trimethylaminuria. Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, [1] is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). [2][3] When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ...
The symptoms of PSS in dogs can vary widely, often depending on the severity and type of shunt. Some dogs may display only mild signs, while others can have severe clinical symptoms. Key symptoms ...