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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.
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Tetrahydrobiopterin deficiency. 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 ...
The researchers analyzed data from around 300,000 adults who were at least 65 years old at the time of their first outpatient creatinine measurement. Creatinine measurement assesses kidney function.
After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset.
The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria ( E.S.PKU) is a Europe-based non-profit organization. It was founded in 1987 by patient-driven associations to help improve the treatment of phenylketonuria (PKU) in Europe.
Dementia is another major dehydration risk factor in older adults due to its cognitive (e.g., forgetting to drink), psychological (e.g., loss of interest in drinking), and physical (e.g., problems ...