PKU+Disease

Eloise Cassier and Mary Thorsen

Causes:
 * PKU is autosomal and caused by mutations in chromosome 12.

Pattern of Inheritence:
 * It is a single-gene, both allele recessive disorder.

Characteristics:
 * Other names for it include Phenylketonuria (PKU), PKU, Classical PKU, PAH, Tetrahydrobiopterin-deficient hyperphenylalaninemia
 * The frequency is 1 in every 15000 births but varies in different populations.
 * It is a condition in which the baby is born without the ability to break down an amino acid called phenylalanine, a type of protein.
 * The disease may cause seizures, albinism, a musty odor to the baby’s sweat and urine, and severe learning disabilities.

Treatments:
 * It can be controlled through diet, or a combination of diet and medication.
 * If left untreated, it can cause severe mental retardation, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning, and behavioral problems.
 * Treating this disease requires restricting foods high in phenylalanine, including meat, chicken, fish, legumes, eggs, nuts, cheese, cow milk, and dairy products. Starchy foods must also be monitored.

Prevention:
 * Mental retardation can be prevented through avoiding the protein phenylketonuria, but PKU itself cannot be prevented since it is a recessive allele disorder that is inherited from the parents.

Testing: <span style="background-color: transparent; color: #000099; font-family: Comic Sans MS; font-size: 10pt; font-style: normal; font-weight: normal; vertical-align: baseline;"> This is a heel prick test.
 * <span style="font-family: Arial,Helvetica,sans-serif;">All states and U.S. territories screen for PKU and babies are tested before they leave the hospital.
 * <span style="font-family: Arial,Helvetica,sans-serif;">The PKU test was the nation's first newborn screening test and is normally detected using a HPLC test.

References:
 * <span style="background-color: transparent; color: #000099; font-family: Comic Sans MS; font-size: 10pt; font-style: normal; font-weight: normal; vertical-align: baseline;">[|__http://www.ncbi.nlm.nih.gov/books/NBK22__][|__253/__]
 * <span style="background-color: transparent; color: #000099; font-family: Comic Sans MS; font-size: 10pt; font-style: normal; font-weight: normal; vertical-align: baseline;">[|__http://www.marchofdimes.com/baby/birthdefects_pku.html__]
 * <span style="background-color: transparent; color: #000099; font-family: Comic Sans MS; font-size: 10pt; font-style: normal; font-weight: normal; vertical-align: baseline;">[|__http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002150/__]
 * <span style="background-color: transparent; color: #000099; font-family: Comic Sans MS; font-size: 10pt; font-style: normal; font-weight: normal; vertical-align: baseline;">[|__http://en.wikipedia.org/wiki/Phenylketonuria__]
 * <span style="background-color: transparent; color: #000099; font-family: Comic Sans MS; font-size: 10pt; font-style: normal; font-weight: normal; vertical-align: baseline;">__http://2009.igem.org/Team:Imperial_College_London/M1/PKU__