• 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 ...

    The Select Committee agreed however that the retention of samples according to the PACE were not in breach of rights to private life or the right to non-discrimination45. As it has been analysed, in part A of this work, DNA evidence offers great benefits to our society.

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

    followed by the SDS-PAGE. "he was able to resolve and detect about 1100 different proteins from lysed E. coli cells on a single 2D map and suggested that the maximum resolution capability might have been as high as 5000 different proteins" 4.


    Enzymes are responsible for the biocatalytic fermentation of sugar to ethanol by yeasts, a reaction that forms the bases of beer and wine manufacturing. Enzymes oxidise ethanol to acetic acid. This reaction has been used in vinegar production for thousands of years.

  2. The Integration of DNA Applications in Forensic Science

    exposure of the autoradiograph. Autoradiographs of each radiolabeled Southern blot were therefore also produced after 36 hr exposure at -80�C with intensifier screen. A subdivision of class I alleles is apparent from the autoradiograph presented, most readily defined by the presence or absence of F-type repeats located at the center and top of alleles (Jeffreys, 2000).

  1. 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.

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

    Professor Vencor also states that: "The Nuremberg Code established that research should avoid doing physical or psychological harm. If cloning were to be performed on human beings at present it would certainly breach that code." (Vencor, 2001, p. 321)

  1. 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.

  2. IRES (Internal Ribosomal Entry Site) Identification in Regulation and Gene Expression.

    * To step back into the previous generation by aligning similar proteins and generating phylogenetic trees to examine evolutionary relationships. The process of evolution has produced DNA sequences that encode proteins with very specific functions. Prediction of the three dimensional structure of a protein is also possible by using algorithms

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