Vegas Lawyer
Helping People Who
Were Hurt In Nevada

Dempsey, Roberts
& Smith, Ltd.
Attorneys-At-Law




Vegas Lawyer
Nevada Legal Help


Home
Mesothelioma
Slip & Fall
Medical Injury
Product Defect
Other Claims
Articles
Contact Us


Las Vegas Lawyer

Vegas Injury Law

Las Vegas Inury Lawyer

vegaslawyer.net

  • Metabolic Disorders












  • Metabolic Disorders

    Metabolic disorders affect the cell's ability to digest, process, and synthesize essential compounds. These problems often arise from genetic, environmental, or nutritional causes. Inborn defects or spontaneous mutations to enzymes involved in a metabolic pathway contribute to the genetic component of this class of diseases. Since enzymes also require vitamins and co-factors to properly function, nutritional deficiencies can also affect an otherwise healthy individual.

    Lipid Disorders

    A lipid is a generic term for a fat molecule. This class of molecules serve structural, signaling, and nutritional functions. A particular subset of lysosomal storage diseases is an example of lipid disorders. Specific lipids accumulate due to the lack of corresponding degradative enzymes. The excess of these lipids in cells have various effects from mental retardation to skeletal deformity.

    Fabry's Disease

    Fabry's disease arises from a deficiency in the alpha-galactosidase enzyme responsible for cleaving a galactose sugar from a product of globoside degradation to form lactosylceramide.

    Apo CII Deficiency

    Apolipoprotein C-II is present as a peripheral apoprotein of chylomicrons, very low density lipoproteins (VLDLs), and intermediate density lipoproteins (IDLs). Apolipoprotein C-II activates lipoprotein lipase to hydrolyze triglycerides in the chylomicrons, VLDLs, and IDLs to release free fatty acids for cellular absorption. When the apoprotein is absent, lipoprotein lipase activity is compromised. This results in high triglyceride and chylomicron levels. LDL and HDL levels are abnormally low. The risk of atherosclerosis does not change significantly.

    Farber's Disease

    Farber's disease is a lysosomal storage disorder involving a deficiency or absence in ceramidase. Ceramidase cleaves a fatty acid from ceramide to form sphingosine.

    Gaucher's Disease

    Gaucher's disease is a lysosomal storage disorder involving a deficiency or absence in beta-glucosidase, which degrades glucocerebroside to form ceramide.

    Krabbe's Disease

    Krabbe disease is a lysosomal storage disorder involving a deficiency or absence in the beta-galactosidase that degrades galactocerebroside to form ceramide.

    Lipoprotein Lipase Deficiency

    Lipoprotein lipase hydrolyzes triglycerides in chylomicrons, very low density lipoproteins (VLDLs), and intermediate density lipoproteins (IDLs) to release free fatty acids for cellular absorption. A deficiency in the enzyme can cause a dramatic elevation in chylomicron and triglyceride levels. VLDL concentration is normal, but the low density lipoproteins (LDLs) and high density lipoproteins (HDLs) are abnormally low. The risk of atherosclerosis is not elevated.

    Niemann-Pick Disease

    Niemann-Pick disease is a lysosomal storage disorder involving a deficiency or absence in sphingomyelinase, which cleaves a phosphocholine from sphingomyelin to form ceramide.

    Phenylketonuria

    Phenylketonuria involves the body's inability to degrade the amino acid phenylalanine (Phe). This can lead to mental retardation and behavioral disorders in children. Diet restriction is oftentimes prescribed for this problem.

    The inability to degrade phenylalanine (Phe) can arise from various enzyme deficiencies. The most common enzyme disorder involves phenylalanine hydroxylase (PAH). PAH converts Phe to tyrosine (Tyr) and is the first enzyme in the Phe degradative pathway. Other defective enzymes may include dihydrobiopterin synthetase and dihydrobiopterin reductase. These are involved in the metabolism of biopterin, an essential cofactor for PAH.

    Sandhoff's Disease

    Sandhoff's disease arises from a deficiency in the beta subunit of hexosaminidase. This results in a defect in both hexosaminidase A and B. Globosides and GM2 gangliosides accumulate.

    Tay-Sachs Disease

    A variant disease known as Sandhoff's Activator disease is caused by a mutation in the activator protein for hexosaminidase A.



    Index | Home

    Contact David Matheny, Esq. for a free consultation.

    (702) 388-1229




    Lawyer Search | Attorney Finder


    Search for more information on Vegas Law and Las Vegas Lawyers:

       



    Open Site - Encyclopedia Project

    Open Site - Become an Editor




    Las Vegas Legal Help
    Nevada Law


















    Vegas Lawyer
    Vegas Lawyers

    Index | Home

    Wrongful Death | Car Accident | Slip & Fall | Malpractice | Product Defect | Other Claims
    Find A Lawyer By State | Search For Attorneys By City | Get Legal Information | Contact Us





    DEMPSEY, ROBERTS & SMITH, LTD.
    520 South Fourth Street, Suite 360
    Las Vegas, Nevada 89101

    Las Vegas Lawyer - Las Vegas Attorney - Las Vegas Personal Injury Lawyer

    Neither the State Bar of Nevada nor any agency of the State Bar has certified any lawyer identified here as a specialist or as an expert.  Anyone considering a lawyer should independently investigate the lawyer's credentials and ability. This site is intended for Nevada residents and those with legal issues arising under the jurisdiction of the State of Nevada.  This site does not give legal advice or create an attorney-client relationship.  Laws are different in other states and localities, consult a local attorney.

    The information in this web site is provided for informational purposes only. The information does not constitute legal advice. The use of this site does not create an attorney-client relationship. Further communication with an attorney through the web site and e-mail may not be considered as confidential or privileged. Please contact our attorneys if you wish to discuss the contents of this web site. Any laws, rules or statutes giving any information, restrictions or deadlines, are always subject to change at any time - Contact a local attorney to obtain the current status of such information.

    In the series of Articles on this site, many government PSAs and other information are excerpted. All such materials are believed to be in the public domain. If any work is protected, contact the webmaster at any of the e-mail links and the material will be taken off the site immediately.

    If you experience unusual problems with this site or discover bad links, please email the webmaster. Thank you.

    Copyright: David Matheny, 2003-2005.