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science- inherited diseases


Stash Pomichter

on 7 January 2013

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Transcript of science- inherited diseases

Which Chromosome is affected? Phenylketonuria The 12th chromosome is mutated in anyone with the disease How is the disorder transmitted? Inherited from both parents, the disease is recessive. Carriers, people with only one trait for the disorder, do not have symptoms. Who is affected? About one in every 10 to 20,000 Caucasian births get the disease. The chance is much less in African Americans. It is equally frequent in both males & females. What is the prognosis? If treated early, and with a careful protein-free diet, anyone with the disease can have pretty normal lives. It is only serious if you treat it late (older than 3 months old). If untreated, there is only a 2% to 5% chance they would have normal intelligence. Symptoms With the disease, you are born without enzyme that breaks down phenylalanine (PHE), a main type of protein. Baby would appear normal at birth, many with blue eyes and fairer hair and skin than the rest of their family. Later, if untreated, the protein that is not being broken down could build up causing severe brain problems like mental retardation and seizures. Other less serious symptoms could be a small head, prominent cheek and jaw bones, far apart teeth, and decreased body growth. It can also lead to depression. Interesting Facts Asbjorn Folling a Norwegian doctor discovered PKU in 1934
Nowadays, all babies are checked for PKU when they're born Is there a treatment? The main treatment is a strict diet with almost no PHE found in foods with protein. Also, some people may take amino acid tablets or powder to help break down the PHE. What is being done for research? Researchers have found that anyone with the disorder can eat virtually no protein. Have recently been looking at glycomacropetide (GMP), the only protein that they may be able to eat. Also, there is no real cure.
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