Phenylketonuria (Fee-null Key-toe Nur-E-ya) or PKU
General Info: Phenylketonuria, or PKU (for obvious reasons) is a disease where the body can't break down an amino acid. Amino acids are a part of your body and a part of proteins. If an amino acid builds up in the system, it can become toxic. The amino acid causing PKU is called phenylalanine (fee-null alan-een). This is cound in meats, dairy products and protiens. It also is a key ingreedient in NutraSweet and related artificial sweeteners. This is why all diet sodas have warning labels on them. While people can't do anything about inheriting PKU, they certainly can control the effects of this disease with a very controlled diet. This prevents retardation and other health probelms.
Chromosomal cause: For a person to get PKU, they would need to inherit two faulty copies of chromosome 12. Each parent must be a carrier for a child to have PKU. This recessive condition appears to be a simple mutation. One of the adenine base pairs was swapped for a thymine (remember the GATC thing). It affects both males and females equally. It is most common in some people of Northern European descent and East Asian, although
Characteristics: A child with PKU begins to develop normally, but after a few months, they become irritable, sluggish, and they start falling behind developmentally. They may have a musty odor. If the disease progresses, they develop mental retardation.
In the 1960s, it became common practice to test all children for this at birth. By modifying the diet, these children can grow up without the retardation and health problems assiciated with PKU.
Phenylketonuria (Fee-null Key-toe Nur-E-ya) or PKU
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