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Storage disease

One limitation of enzyme replacement therapy is the targeting of enzyme proteins to appropriate sites of substrate accumulation. Administration of a cholesterol esterase conjugated to albumin results in the degradation of pathologic cholesterol ester accumulations within the lysosomes of fibroblasts from a patient with cholesterol ester storage disease (246). [Pg.312]

C1C-6 is a late endosomal chloride transporter. Its disruption in mice led to lysosomal storage disease. C1C-7 is expressed in late endosomes and lysosomes. It needs Ostml as (3-subunit [3]. The disruption of either C1C-7 or Ostml in mice and man leads to severe osteopetrosis, retinal degeneration, and a severe lysosomal storage disease. ClC-7/Ostml is highly expressed in osteoclasts. In these cells, it is inserted together with the proton pump into the specialized plasma membrane ( ruffled border ) that faces the reabsorption lacuna. Osteoclasts are still present in C1C-7 knockout... [Pg.372]

A Chemical Investigation of Two Cases of Glycogen Storage Disease, S. A. Barker, M. Stacey, and M. A. L. Al-Farisi, Clin. Chim. Acta, 8 (1963) 311-314. [Pg.37]

Metabolic Myopathies Glycogen Storage Disease Disorders of Lipid Metabolism Respiratory Chain Disorders Mitochondrial DNA Abnormalities Myotonias, Periodic Paralyses, and Malignant Hyperpyrexia Myotonias... [Pg.281]

Di Mauro, S., Bonilla, E., Hays, A.P., Ricci. E. (1992). Skeletal muscle storage diseases resulting from errors in carbohydrate and fatty acid metabolism. In Skeletal Muscle Pathology (Mastaglia, F.L., Walton, J.N., eds.), pp. 425-451, Churchill-Livingstone, Edinburgh. [Pg.353]

Use iron complex former (for therapy of iron storage diseases)... [Pg.579]

Rahman, Y. E. (1988). Use of liposomes in metal poisonings and metal storage diseases, in Liposomes as Drug Carriers Recent Trends and Progress (G. Gregoriadis, ed.), John Wiley and Sons, Chichester, pp. 485-495. [Pg.332]

Glycogen storage disease is a generic term to describe a group of inherited disorders characterized by deposition of an abnormal type or quantity of glycogen in the tissues. The principal glycogenoses are summarized in Table 18—2. Deficiencies of adenylyl kinase and cAMP-dependent protein kinase have also been re-... [Pg.151]

Inherited deficiencies in specific enzymes of glycogen metabolism in both liver and muscle are the causes of glycogen storage diseases. [Pg.152]

There are numerous abnormalities of cysteine metabolism. Cystine, lysine, arginine, and ornithine are excreted in cystine-lysinuria (cystinuria), a defect in renal reabsorption. Apart from cystine calculi, cystinuria is benign. The mixed disulfide of L-cysteine and L-homocysteine (Figure 30-9) excreted by cystinuric patients is more soluble than cystine and reduces formation of cystine calculi. Several metabolic defects result in vitamin Bg-responsive or -unresponsive ho-mocystinurias. Defective carrier-mediated transport of cystine results in cystinosis (cystine storage disease) with deposition of cystine crystals in tissues and early mortality from acute renal failure. Despite... [Pg.250]

Two distinct pathways convert cysteine to pyruvate. Metabohc disorders of cysteine catabohsm include cystine-lysinuria, cystine storage disease, and the ho-mocystinurias. [Pg.262]

There are important methodologic considerations which apply to the use of cultured amniotic fluid cells for the detection of biochemical disorders. The first is that the enzymes which can be sampled are those which are usually present in fibroblasts or fibroblast-like cells. Therefore, conditions such as phenylketonuria and glycogen storage disease type I, which are associated with deficiencies of enzymes present only in liver and kidney, are not amenable to this approach. The same also pertains to enzyme deficiencies affecting other specific tissues. [Pg.81]

Fabry s disease An x-linked recessive lipid storage disease with an accumulation of the glycosphingolipid. [Pg.1566]

Martiniuk, F., Chen, A., Donnabella, V. et al. (2000) Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line. Biochemical and Biophysical Research Communications, 276 (3), 917-923. [Pg.58]

More data are needed on post-harvest storage diseases of organic crops, because chemical controls cannot be used on organic products. This is important in relation to fungal toxins, e.g. aflatoxin. [Pg.322]

The function of the ALD protein is not fully understood, and knockout mice lacking it do not exhibit the severe CNS neurological deficits commonly associated with the human disease despite a similar accumulation of VLCFAs [26], Furthermore, the clinical variability in human patients cannot be accounted for by the severity of the biochemical abnormality or the nature of the gene defect. These observations, plus other data from mice with defects in VLCFA metabolism, raise the issue of whether the accumulation of VLCFAs in myelin is crucial to the pathological mechanisms or is an epiphenomenon. Unlike most other lipid-storage diseases, active ALD brain lesions are characterized by perivascular accumulation of lymphocytes. For this reason, it has been hypothesized that the severity of CNS pathology may relate to an autoimmune reaction that varies from patient to patient and... [Pg.648]

Primary lysosomal hydrolase defects. Two-thirds of the lysosomal storage diseases involve defects in genes that code for acid hydrolases. Table 41-2 lists 29 defects that have been defined so far. They have an autosomal recessive mode of inheritance, except for Hunter s syndrome and Fabry s disease, where the mode is X-linked recessive. The defective genes have been identified and mutations have been defined for nearly all. The nervous system is involved in most. Many of the disorders show a wide range of clinical severity, which may range from death in early childhood to a moderate disability in adulthood. [Pg.685]


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See also in sourсe #XX -- [ Pg.125 , Pg.135 ]

See also in sourсe #XX -- [ Pg.579 ]

See also in sourсe #XX -- [ Pg.232 ]




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