RUBRIC-

Research:

Tay-Sachs:

Ann -
Diagnosis: Prenatal tests, such as chorionic villus sampling (CVS) and
amniocentesis, can diagnose Tay-Sachs disease.CVS is performed between
10 and 12 weeks of pregnancy and involves taking a sample of cells from the
placenta via the vagina or abdomen. Amniocentesis is done between 15 and
20 weeks of pregnancy and involves extracting a sample of the fluid
surrounding the fetus using a needle through the mother’s abdomen. If a child
is displaying symptoms of Tay-Sachs, a doctor can perform a physical
examination and collect family history. Enzyme analysis can be done on the
child’s blood or tissue samples, and an eye exam may reveal a red spot on
their macula (a small area near the center of the retina of their eye).
Treatment: There is no cure for Tay-Sachs. Treatment typically consists of
keeping the child comfortable. This is called “palliative care.” Palliative care
may include medication for pain, anti-epileptics to control seizures, physical
therapy, feeding tubes, and respiratory care to reduce mucus buildup in the
lungs.
Description: Tay-Sachs is a disease of the central nervous system. It is a
neurodegenerative disorder that most commonly affects infants. In infants, it
is a progressive disease that is unfortunately always fatal. Tay-Sachs can also
occur in teens and adults, causing less severe symptoms, although this occurs
more rarely.
Complications: Complications of Tay Sachs include deafness, decreased eye
contact, blindness, decreased muscle tone (loss of muscle strength), loss of
motor skills, paralysis, slow growth and delayed mental and social skills,
Dementia (loss of brain function), Increased startle reaction, Irritability and
Listlessness.
Reference.
https://www.healthline.com/health/tay-sachs-disease#symptoms

Lily -
Description - Tay-Sachs is a hereditary genetic disorder which inhibits the
body from producing Hexosaminidase A or Hex-A from birth. Hex-A is
found in lysosomes and decomposes fatty substances called gangliosides and
in its absence, nerve cells will stop functioning due to the overload of
gangliosides and this can result in several fatal and/or untreatable conditions
including hearing loss, blindness, paralysis, loss of/affect on motor skills, and
more.
Causes of Disorder - Tay-Sachs is caused by one previously mutated copy of
a gene passed from both parents to a child. The parents don’t show symptoms
because they only carry one of the two alleles needed for the disorder to have
an affect on them since the gene is recessive. Since the gene is recessive, the
disease is quite rare, and this gene is located in chromosome 15. The gene is
found more often in people of eastern European Jewish (Ashkenazi) decent
and so these populations, along with those in certain French-Canadian towns
in Quebec, the Old Order Amish community in Pennsylvania, and the Cajun
community of Louisiana are more susceptible to the disorder today according
to the Mayo Clinic and Medline Plus.
Progression of Symptoms + Detection of Disorder - At birth, the infant will
appear to be normal and healthy, however different symptoms progress as the
child grows. At about 6 months of age, the child’s development may be
noticeably slower and other symptoms such as “cherry-red” spots in eyes and
trouble maneuvering muscles can start to occur. At around the age of 2
seizures and other fading mental functions can start to affect them and within
the next year blindness and paralysis may result. Ways to detect the disorder
before all of these symptoms occur and are evaluated include amniocentesis,
chorionic villus sampling, and blood samples to detect carriers.
All information above is paraphrased from the following sources:
Mayo Clinic Article.
MedlinePlus Article
Tay-Sachs Powerpoint from CDC (when clicked the powerpoint will
download)

PKU:

Ria -
Genetic description- PKU is caused by a genetic mutation. There is a
mutation on both alleles of the gene for phenylalanine hydroxylase (PAH) on
chromosome 12. The mutation causes the person to produce too much PAH.
Source: https://www.ncbi.nlm.nih.gov/books/NBK22253/#:~:text=Classical
%20PKU%20is%20an%20autosomal,to%20tyrosine%2C%20another
%20amino%20acid.
Diagnosis- All 50 states in the U.S are required to screen all newborns and
test their blood for PKU. Firstly, the infant must be fed protein for the PKU
to be detectable. Then, blood is taken out after the newborn has been birthed
after 24 hours. The blood is sent to a lab to determine if there is too much
PAH.
Source: https://www.mayoclinic.org/diseases-
conditions/phenylketonuria/diagnosis-treatment/drc-20376308
Symptoms- skin rashes, seizures, small head size, a musty odor of the urine,
skin, or breath, stunted or slow growth, and fair skin and blue eyes regardless
of race, due to lack of melanin.
Source:
https://www.nichd.nih.gov/health/topics/pku/conditioninfo/symptoms

Vaani -
Genetic Description- Phenylketonuria also called PKU is a rare, hereditary
disease caused by a defect in the gene that helps create the enzyme needed to
break down phenylalanine.
Without the enzyme to digest phenylalanine, a harmful buildup can develop
when a person who has PKU eats foods that contain proteins or eats
aspartame- an artificial sweetener. This can lead to serious health problems.
Diagnoses and treatment- People with PKU- children, babies, or adults need
to maintain a diet that does not contain phenylalanine which is mostly found
in foods with proteins.
Babies in the US and many other countries are screened for PKU right after
birth. Recognizing PKU early can prevent major health problems.
Initially, babies with PKU don’t develop symptoms right away but develop
signs within a few months
Symptoms-A musty odor in the breath skin or urine caused by too much
phenylalanine in the body.
Neurological problems such as seizures
Skin rashes
Abnormally small head
Hyperactivity
Intellectual disability

Sources- https://www.mayoclinic.org/diseases-
conditions/phenylketonuria/symptoms-causes/syc-20376302
If PKU isn’t diagnosed at birth and treatment doesn’t start quickly it can
cause irreversible brain damage and intellectual disabilities within the first
few months when a baby is born.
Behavioral problems and seizures in children that are older.

This is caused by a defect in the PAH gene, which helps create phenylalanine
hydroxylase, the enzyme responsible for the breaking down of phenylalanine
Both parents pass on a defective version of the PAH gene for their child to
inherit the disease, of only one parent passes on the defective gene, the child
will not have symptoms but will be a carrier of the gene.

https://www.healthline.com/health/phenylketonuria#symptoms