Phenylketonuria

Phenylketonuria

• This genetic disorder is also abbreviated as PKU.
• This disorder usually manifests itself in infants through mental retardation and behavioral problems.  There is also the potential for seizures, developmental delay, and autism.
• This disorder can either be inherited or found in gene mutations. Specifically, mutations in the PAH gene cause low levels of “an enzyme called phenylalanine hydroxylase” (“Phenylketonuria” 1). This enzyme causes a person to be unable to digest phenylalanine.
• PKU is treated by “limiting the amount of protein in the diet. Treatment also includes eating low-protein foods and taking vitamins and minerals” (“Phenylketonuria” 1).
• PKU is typically tested for through a newborn screening test that is done shortly after birth through a blood sample. 

Marfan Syndrome

Marfan Syndrome 

•  This disorder manifests itself typically in myopia which is nearsightedness. There is also an increased risk for retinal detachment, glaucoma and early cataract formation. Additionally, there is also the potential for bone overgrowth and loose joints.
• Marafan syndrome is caused by mutations in the FBN1 gene. This gene’s mutations are “associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns” (“Marfan” 1).
• Marafan syndrome does not have a cure but there are many effective treatments available. Many of any of the symptoms are easily remedied. For example, the eye problems often can simply be fixed with glasses. Medication can also be used such as beta blockers to help protect the heart.
• Individuals who have Marfan syndrome are advised to avoid contact and competitive sports because of their static nature (“Marfan” 1).

Noonan Syndrome

Noonan Syndrome

• Symptoms of this genetic disorder include a characteristic facial appearance, short stature, heart defects present at birth, a broad or webbed neck and minor eye problems. Furthermore, there can also be bleeding problems, an unusual chest shape with widely spaced or low set nipples and developmental delay of varying degrees.
• This syndrome is caused by changes in one of the autosomal dominant genes (“Noonan” 1). This disorder is caused at inception so a defective sperm or egg is a carrier for this disorder. Four genes, PTPN11, SOS1, RAF1 and KRAS, have been identified so far as being carriers for this disorder.  
• Treatment for Noonan syndrome is based upon the individual’s particular symptoms. Any symptoms are treated in the same way that they are treated for the normal population.
• This disorder is present in about 1 in 1,000 to 1 in 2,500 people. 

Gaucher Disease

Gaucher Disease

•  Gaucher Disease has no specific symptoms as it varies greatly among those who have the disorder. However, it is typically seen with an enlargement of the liver and spleen, a low number of red blood cells, easy bruising, and bone disease. There can also be defections within the heart, lung and nervous systems.
• Gaucher disease is caused by mutations in the gene GBA. The mutations cause very low levels of glucocerebrosidase which is a normal part of the cell membrane. Essentially, this lipid that is part of the cell membrane will build up in the liver, spleen and bone marrow. This buildup interferes with normal functioning (“Gaucher” 1).
• This is a very manageable genetic disorder. There is enzyme replacement therapy for the effective treatment for those who have this disorder. This treatment helps to reverse the symptoms of Gaucher disease. Other alternatives include oral treatments as well.
• The only way to have this genetic disorder is if both of the parents have a mutated copy of the GBA gene originally (“Gaucher” 1). 

Progeria

Progeria

• Progeria is a genetic disorder that does not show itself until a child is about one year old. Within that year, the children are soon much shorter and weigh much less than others their age. These children also “develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (“Progeria” 1). These children also have “symptoms typically seen in much older people such as stiffness of joints and hip dislocations” (“Progeria” 1).
• Progeria is caused by a tiny, point mutation in a single gene called lamin A (LMNA). This gene codes for two proteins that “play a key role in stabilizing the inner membrance of the cell’s nucleus” (“Progeria” 1).
• There is no possible treatment or cure for children with Progeria. This devastating condition will eventually kill the child around age 13. Unfortunately, this death is typically caused by a heart attack or stroke.
• Progeria is derived from the Greek word meaning old age “geras” (“Progeria” 1).

Canavan Disease

Canavan Disease

• Canavan Disease is often appreviated as CD.
• Canavan Disease has multiple symptoms such as rapidly increasing head circumference, lack of head control, reduced visual responsiveness, and abnormal muscle tone (“What is” 1).
• This disorder is a neurological disorder that affects the growth of the myelin sheath which is an insulator to protect nerves. Typically, a deficiency of the enzyme aspartoacylase is the main cause which causes a chemical imbalance destroying the myelin sheath.
• There is no cure for this disease. Most often children with this disease do not even live past the age of 10. Most often, these children suffer seizures, become paralyzed and have trouble swallowing.
• This disorder primarily affects children of eastern and central European Jewish descent (“What is” 1). 

Angelman Syndrome

Angelman Syndrome

•  Angelman syndrome manifests itself through developmental delays. Most often, these delays include lack of crawling or babbling. Additionally, there can be a lack of or minimal speech, inability to walk, move or balance well, trembling movement of arms and legs, frequent smiling and laughter and a happy, excitable personality.
• This disorder is most often caused by “problems with a gene located on chromosome 15 called the upiquitin-protein ligase E3A gene” (Staff 1). The problem is typically when chromosome 15 is missing or damaged. This chromosome is active in the brain.
• There is no cure for this disease. Any treatment done helps manage the medical and developmental problems that the chromosome defects cause. Typically, this involves anti-seizure medications, physical therapy, communication therapy, and behavior therapy.
• Typically people with this disorder do live a normal life span. However, as they age, these  people may "become less excitable" (Staff 1).