• 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 fifty commercial industrial enzymes are available and their number increases steadily. 3. Enzyme production Some enzymes are still extracted from animal or plant tissues. Plant derived commercial enzymes include proteolytic enzymes papain, bromelain and ficin and some other speciality enzymes like lipoxygenase from soybeans.

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

    The Development of Gel Electrophoresis. The first introduction of a gel electrophoresis was presented in 1950 by Gordon et al and was improved by Wieme by the introduction of the gel being supported on a glass slide. This cut out the need of the paper wicks thus preventing the adsorption of the voltage gradient2.

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

    The aim of this experiment is to identify serum proteins from a sample by means of PAGE, then by means of the above equation identify those which have the least interaction, and thereby obtaining the Rf value of each band.

  1. The Integration of DNA Applications in Forensic Science

    Running blanks, checking standards on the equipment routinely and monitoring expiration dates of reagents are a few guidelines that should be in every laboratory protocol. The final contributor to error in the laboratory is evidence contamination that results in test failures or unusual spikes.

  2. The Principles and Methodology of 2D Electrophoresis and its Application in Proteomics and Disease ...

    In there procedure they used starch gels, but these gels were not very optimal, however according to Righetti4 all the credit for the development and success of this technique went to O'Farrell and Klose in 1975, In this procedure the separation was obtained by pre-treating the samples in heated up SDS-urea solutions with the IEF (isoelectric focusing)

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

    stated a principle which they call the Genetic Principle, the principle is as follows: "Genetic Principle: Genetic diversity, in both human and nonhuman species, is a precious planetary resource, and it is in our best interests to monitor and preserve that diversity."

  2. Perhaps the most famous part of the Sistine Chapel ceiling is called &amp;quot;The Creation ...

    Lee Silver, professor of molecular biology, and Norm Fost, professor of bioethics, have been quoted extensively in the media for their views on the subject (http://www.princeton.edu/~bioethic). We talked to a number of other experts, whose opinions appear below. But first, some background for those who managed to miss the hullabaloo last week regarding the story of Dolly the Sheep.

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