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  • 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 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.

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