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PKU was the first disorder to be routinely diagnosed through widespread newborn screening. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [67] With the knowledge that PKU could be detected before symptoms were evident, and treatment initiated, screening was quickly adopted around the world.
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 ...
Constipation is more concerning when there is weight loss or anemia, blood is present in the stool, there is a history of inflammatory bowel disease or colon cancer in a person's family, or it is of new onset in someone who is older. [12] Treatment of constipation depends on the underlying cause and the duration that it has been present. [4]
Spinal cord injury and other neurological problems mostly affect the lower GI tract (i.e., jejunum, ileum, and colon) leading to symptoms of incontinence or constipation. However, the upper GI tract (i.e., esophagus, stomach, and duodenum) may also be affected and patients with NBD often present with multiple symptoms.
Functional constipation, also known as chronic idiopathic constipation (CIC), is defined by less than three bowel movements per week, hard stools, severe straining, the sensation of anorectal blockage, the feeling of incomplete evacuation, and the need for manual maneuvers during feces, without organic abnormalities.
Fecal impaction is a common result of neurogenic bowel dysfunction and causes immense discomfort and pain. Its treatment includes laxatives, enemas, and pulsed irrigation evacuation (PIE) as well as digital removal. It is not a condition that resolves without direct treatment.