Top
40
Doctor insights on: Pku Mutation Analysis

Share
1

1
What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

See 1 more doctor answer

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


2

2
Can phenylketonuria (pku) be a chromosomal mutation?

Can phenylketonuria (pku) be a chromosomal mutation?

Sort of: It may be a matter of terminology. Pku is a genetic disorder due to mutations in a gene. See this site for more info. http://www.mayoclinic.com/health/phenylketonuria/ds00514. ...Read more

3

3
Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

See 1 more doctor answer
Dr. Jay Park Dr. Park
2 doctors agreed:
5

5
Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:
Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

See 2 more doctor answers
6

6
Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

See 2 more doctor answers
7

7
Is hemophilia a gene mutation?

Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

8

8
Etiology of DNA mutations?

Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

9

9
How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

10

10
What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

11

11
Is a neural tube defect a chromosomal mutation or a gene mutation?

Both or neither.: While neural tube disorders can be a genetic mutation (gene is a functional unit of heredity occupying a specific spot--locus--on a chromosome), they occur most commonly in the setting of Folic Acid deficiency during pregnancy--hence prenatal vitamins with folic acid. Ntds occur in 1/1000 births, and range from spina bifida occulta to anencephaly. ...Read more

12

12
Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

See 1 more doctor answer
13

13
Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

14

14
What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

15

15
Sickle trait is a recessive gene?

basically yes: The mutation that causes sickle cell disease is a recessive mutation in that you need two copies of the changed gene to have the disease (or one copy plus another mutation on the other gene like beta thalassemia, hemoglobin c, hemoglobin e, etc). If you only have one copy, you have sickle cell trait. ...Read more

17

17
How id pku inherited?

How id pku inherited?

Recessive gene trait: We each have pairs of any specific gene & these reside on the chromosome passed from the respective parent.When a defective gene comes from one parent, but not the other, the normal gene can keep up with the bodies needs. (no PKU) If both parents pass the bad gene, no work is done & PKU develops.If one defective gene produced the problem it would be called a "dominant" gene or inheritance ...Read more

See 2 more doctor answers
19

19
Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more

20

20
Do ovum donors undergo genetic testing or pedigree evaluation?

Do ovum donors undergo genetic testing or pedigree evaluation?

Yes: Check with your rei specialist for details, but all ovum donors would be asked to report a detailed family history and would be tested for common recessive disorders, such as cystic fibroisis. Many programs would also request more extensive testing including a panel of 100 such recessive diseases, including such problems as spinal muscular atrophy, the askenazi jewish panel, fragile x, & more. ...Read more

See 1 more doctor answer
21

21
What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

See 1 more doctor answer
22

22
Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

See 1 more doctor answer
23

23
Can phenylketonuria (pku) be a chromosomal mutation?

Sort of: It may be a matter of terminology. Pku is a genetic disorder due to mutations in a gene. See this site for more info. http://www.mayoclinic.com/health/phenylketonuria/ds00514. ...Read more

24

24
Please suggest what type of mutation occurs in pku?

PKU is inherited by : autosomal recessive transmission. Both parents carry a mutation of a gene on the long arm of Chromosome 12, causing deficiency of the enzyme phenylalanine hydroxylase in a child who inherits both mutant genes. The child is unable to use an amino acid called Phenylanine. Excess Phenylalanine from dietary protein is toxic to the brain.See http://www.npkua.org/Education/AboutPKU.aspx ...Read more

25

25
What type of mutation occurs in patients with pku?

What type of mutation occurs in patients with pku?

Autosomal recessive: The gene defect is carried by both asymptomatic parents who have one normal gene to make up for their defective one. When 2 defective genes end up in their baby the cells do not have the code needed to use phenylalanine. Toxic products build up in babies blood unless phenylalanine is removed from their diet. ...Read more

26

26
A person needs 1 pah mutation from each parent to have pku/hpa. Do they need to be the same mutation or can one be ie a300s and one be e390g?

Genetic counselor : At this time, i would not commit my opinion to this very good question. I would seek advice from perinatologist and/or genetic counselor. ...Read more

See 1 more doctor answer
27

27
Is pku newborn screening is required in all 50 u.S. States as well as canada?

Is pku newborn screening is required in all 50 u.S. States as well as canada?

USA: All states in the US require PKU newborn screening blood testing. Canada has been performing the test since 1960. ...Read more

28

28
How many different people in the u.S. Suffer from phenylketonuria (pku)?

How many different people in the u.S. Suffer from phenylketonuria (pku)?

About 15,000: It is estimated that there are about 14, 000 - 15, 000 people in the usa living with pku. Pku alliance (a patient organization) has excellent information on how common pku is and how it is screened. Here link for your convenience: http://www.Npkua.Org/education/aboutpku.Aspx. ...Read more

29

29
How does pku Impact the family and individual?

How does pku Impact the family and individual?

Many ways: PKU is an inherited recessive disorder where an individual does not make the enzyme needed to metabolize phenylalanine, an amino acid in protein. Elevated levels in childhood cause developmental delays, but can be prevented with a special diet that should be continued lifetime to maintain mental abilities. During pregnancy, elevated levels of pku can affect fetus. See http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275 ...Read more

30

30
What foods should you avoid if you are diagnosed with pku?

Proteins : Most meats, chicken, fish, beef, turkey, bacon, milk and dairy, soy, most legumes aspartame sweetener all are too high in phenylalanine for pku sufferers. ...Read more

See 1 more doctor answer
32

32
What is a pku done on the babay and what happens if it comes back abnormal?

Newborn screening: Pku is a label often applied to the newborn screening program that has gone on for the last 50 years or so in some form throughout the states.Any + for any of the tests(~34 in texas)requires that a specific confirmatory test be done to see if the screening was a false + or a real problem. I usually hear about a + screen a week after the test & bring in the kid for testing & discussion. ...Read more

33

33
What is the life expectancy of a baby with pku?

What is the life expectancy of a baby with pku?

Quite awhile: If they follow the diet, children with pku can absolutely become healthy, productive adults. With discipline, this can be managed! ...Read more

34

34
Does anyone know the percent of the u.S. Population affected with phenylketonuria (pku)?

1 in 15,000: Varies according to country. Usa 1 in 15, 000, finland and japan lowest with 1 in 100, 000, and 1 in 120, 00 births respectively. Caucasians 1 in 10, 000. ...Read more

See 1 more doctor answer
35

35
What are some prenatal tests for phenylketonuria (pku)?

What are some prenatal tests for phenylketonuria (pku)?

New born testing: All new borns are tested for pku. There is no danger to the fetus, as long as mother does not have pku. Pre-natal testing is not indicated as treatment of the newborn prevents illeffects of pku. ...Read more

36

36
What is PKU? & could adults wind up getting that ? Or is that something only found in newborns ?

What is PKU? & could adults wind up getting that ? Or is that something only found in newborns ?

PKU: Phenylketonuria is a condition in which your body can’t break down an amino acid, phenylalanine. It is inherited if both parents have the gene. We test newborns because if it is detected early, the effects can be avoided. If untreated, it causes seizures, mental retardation, devastating. It is not something acquired in adulthood. If healthy and normal intelligence, you do not have it. Be well! ...Read more

See 3 more doctor answers
37

37
How are causes and onsets of symptoms of huntington's disease different from those of pku and tay sacks disease?

Too broad a question: There are all inherited disorders with the common issue of neurologic impairment, hd in adults, pku and ts in children. The neurologic damage in pku can be prevented with diet, but there is no treatment for hd and ts. Tests are available to detect carrier status in all of these. ...Read more

38

38
What vitamins do you take if you have pku?

Special product: Because the pku diet is so restricted, those with pku must take a special medical product that has the proper supplemental nutrients to support good health. There are several brands available. ...Read more

39

39
How are abnormal pku/thyroid results relayed?

Varies: In texas the initial results are often faxed to the attending physician by 2 weeks of age when normal while abnormal results are sent out asap as an urgent fax or call. The parents may be contacted directly based on information obtained at the hospital.The notification will review the more specific confirmatory testing needed that is more accurate than the screening test. ...Read more

40

40
Are there effective alternative therapies for pku?

No: The only way to treat pku or rather to prevent symptoms of this disease is proper diet eliminating certain aminoacids from the diet. To prevent malnutrition you need to discuss this diet with specialist in metabolic diseases and dietitian. ...Read more

See 2 more doctor answers
Dr. Gurmukh Singh
73 doctors shared insights

Pku (Definition)

It is a congenital deficiency of an enzyme which digests a protein in milk causing a build-up of a substance that causes brain damage in infants. This disorder is tested for in all newborns and a special formula ...Read more