• Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

Glycogen storage disease

Extracts from this document...


BINDUPRIYA NEELURU REGISTRATION NUMBER: 13101307 a) Glycogen storage diseases are inherited metabolic disorders. Metabolism is a mechanism to supply energy to the body and various enzymes are associated with it. Types of GSD are classified based on the deficiency of any of the enzymes associated with it. GSD type 0 also called glycogen synthetase deficiency attacks only liver and the major difference between this type and the rest is that it doesn't store abnormal glycogen but only stores decreased glycogen in liver. This is due to mutation in gene at locus 12p12. Diagnostics include measuring serum glucose levels and serum lipids and imaging tests like skeletal radiography. (Lerardi-curto L, 2010) GSD type 1a caused due to mutation at loci 17q21 leading to the deficiency of true enzyme glucose 6 phosphatase (G6Pase) and GSD type 1b caused due to mutation at loci 11q23 that leads to the deficiency of glucose 6-phosphate transporter (G6PT). Diagnosis is usually based on analysis of various genetic mutations and Initial test is to measure blood for glucose levels with electrolytes, CBC count, Ultrasonography of Liver and kidneys. (Roth K S, 2009) Molecular Genetic Testing is usually done for the genes, G6PC and SLC37A4 that result in the disease. ...read more.


Tests include assessing urine ketone levels and serum ketone bodies and liver volume quantitative tests by MRI or CT scan. Definitive methods include liver biopsy, enzyme analysis. (Lerardi-Curto L, 2010) Genetic testing of PYGL gene that is associated with the disease is done for accurate results. (Dali A I and Weinstein D A, 2009) GSD type VII also called tarui disease; is due to deficiency of phosphofructokinase enzyme that plays key role in regulating glycolysis. The disease is caused due to frameshift mutations in the gene that codes for PFK-M subunit at locus 12p13. Definite diagnosis include muscle biopsy and biochemical test involved is to assess the of serum creatine kinase, bilirubin levels and imaging tests like brain imaging scans and phosphorous 31-NMR are useful in diagnosis. (Lerardi-Curto L, 2009) Screening tests usually performed are glucagon tolerance tests and other biochemical data obtained from serum is evaluated and best possibility to diagnose hepatic GSD is using peripheral blood cells. (Maire I et al., 1991) Controls used in diagnostic methods are usually of age and sex matched and were also checked for their exercise levels with the patients. ...read more.


Available from: emedicine. <http://emedicine.medscape.com/article/944467-overview> <http://emedicine.medscape.com/article/944467-diagnosis> [Accessed 12 October 2010] Roth K S., (2009). Medscape clinical references. Available from: emedicine < http://emedicine.medscape.com/article/949937-overview> <http://emedicine.medscape.com/article/949937-diagnosis> [Accessed 15 October 2010] Bali D S and Chen Y T., ( 2008). Gene reviews Available from: NCBI Gene reviews < http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd1> Accessed 9 October 2010] Ibrahim J and McGovern M M., (2010). Medscape clinical references Available from: emedicine < http://emedicine.medscape.com/article/947870-overview> < http://emedicine.medscape.com/article/947870-diagnosis> [Accessed 13 October 2010] Tinkle B T and Leslie N., ( 2010). Gene reviews Available from: NCBI Gene reviews < http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd2. > [Accessed 16 October 2010] Tegay D H and Jose R., (2009). Medscape clinical references Available from: emedicine <http://emedicine.medscape.com/article/942618-overview > <http://emedicine.medscape.com/article/942618-diagnosis> [Accessed 11 October 2010] Lerardi-Curto L., ( 2009). Medscape clinical references Available from: emedicine < http://emedicine.medscape.com/article/941632-overview> < http://emedicine.medscape.com/article/941632-diagnosis> [Accessed 18 October 2010] Cupier E J et al., (2009). Medscape clinical references Available from: emedicine <http://emedicine.medscape.com/article/946577-overview> < http://emedicine.medscape.com/article/946577-diagnosis> [Accessed 14 October 2010] Arenas J et al., (2009). Gene reviews Available from: NCBI Gene reviews <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd5> [Accessed 9 October 2010] Lerardi-Curto L., (2010). Medscape clinical references Available from: emedicine <http://emedicine.medscape.com/article/950587-overview> [Accessed 13 October 2010] Dali A I and Weinstein D A., (2009). Gene reviews Available from: NCBI Gene reviews <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd6> [Accessed 15 October 2010] Lerardi-Curto L., (2009). ...read more.

The above preview is unformatted text

This student written piece of work is one of many that can be found in our University Degree Genetics section.

Found what you're looking for?

  • Start learning 29% faster today
  • 150,000+ documents available
  • Just £6.99 a month

Not the one? Search for your essay title...
  • Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

See related essaysSee related essays

Related University Degree Genetics essays

  1. DNA Fingerprinting: A review of the criticisms of DNA evidence. Is it really the ...

    profiles to find a clue on the appearance of the suspect, where no other evidence is available. With respect to that, Sir Jeffreys expressed his discomfort by saying that "The use of this sort of very private genetic information by the police does fill me with very considerable concern50."


    More than 75% of industrial enzymes are hydrolases. Protein-degrading enzymes constitute about 40% of all enzyme sales. Proteinases have found new applications but their use in detergents is the major market.

  1. Separation of serum proteins and enzymes bypolyacrylamide gelelectrophoresis (PAGE)

    It is the main protein constituent. 2 2.2 0.22 Alpha zone (?) This was the band that travelled the second furthest. 3 0.9 0.09 Beta zone (�) This band travelled the third furthest. 4 0 0 Gamma zone (?) This band remained on the origin and did not move towards the anode.

  2. Explain How The Development of Electrophoretic Techniques has played a key role in (a) ...

    The first of his experiments which were carried out with horse serum enabled the globulins to separate into three parts. Tiselius named the three parts alpha, beta, and gamma. Further investigation showed that the three areas were different chemically and that the antibodies, or immunoglobulins, were found in the gamma globulin or between the beta and gamma globulins3.

  1. The Integration of DNA Applications in Forensic Science

    documented clear instructions on the procedures for safety, the handling of evidence and laboratory security as well as the analysis procedure. Finally, case records and data must be retained by the laboratory and available for audit on court orders. The ASCLD-LAB requires extensive documentation of all laboratory operations as part

  2. Playing God Will Not Help Us Grow - clonning.

    What this principle is saying is that the diversity of mankind is one of mans and all species greatest assets. It is one the resources that mankind works as hard as possible to protect.

  1. Skin cancer: not only and old person's disease

    Some cancers do not form tumors. For example, leukemia is a cancer of the bone marrow and blood. Part 1 In the case study two friends were lying in the sun Judy and Mariah trying to get a sun tan.

  2. Genetics Report on Laboratory Grown Sperm

    should have a say on this matter as Science is the truth of all that we know" (dailymail.co.uk/health). According to Dr Allen Pacey, designer babies with desirable attributes may become, "The most important social harm likely to result from non-regulation of genetic testing is the facilitation and encouragement of free-market

  • Over 160,000 pieces
    of student written work
  • Annotated by
    experienced teachers
  • Ideas and feedback to
    improve your own work