Decent Essays

PHENYLKETONURIA. Have you ever heard of the genetic disorder called phenylketonuria? Phenylketonuria (PKU) if not treated, makes your pee stink ( A scientist found that there was a bunch of simpletons caused by parents’ gens. He is a respected Indian scientist in Norway ( PKU is found and diagnosed by a doctor getting blood from the baby and put I'm ting it threw a test. Origin of Discovery working from his own improvised laboratory in the attic of the medical ward. He checked the urine samples first visually and then chemically for acidity, pus, protein, and glucose. Protein or glucose in the urine would have suggested kidney malfunction, especially diabetes. But all the tests were negative. Except …show more content…

But unlike the others Følling tried another test: he added some drops of acidified ferric chloride solution to each pee sample. This commonly used to detect diacetic acid (now typically called acetoacetic acid), which would have show complications of diabetes or possibly hungry. If diacetic acid is present in the urine, the sample turns a purple or burgundy color. But both children’s samples turned a deep green color, a reaction Følling had never seen before. A search of the literature told him that no one had seen this reaction before. Borgny children were excreting an unknown substance into their urine. Symptoms The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without surgery or some type of treatment, these children get permanent intellectual disability. Seizures, delayed actions, acting problems, and psychiatric disorders are also common. Untreated people have a musty or mouse-like smell as a side effect of excess phenylalanine in the body. kids with classic PKU usually have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as

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