Storage disorders

Excessive accumulation of iron (chronic iron overload) can result from the following. 

Defective erythropoiesis (dyserythropoiesis) impaired hemoglobin synthesis leading to lack of utilization and consequent accumulation of iron in mitochondria, e.g., from inhibition of ALA synthase activity by dietary vitamin 85 deficiency inhibition of heme synthesis by lead impairment of pyridoxine metabolism in alcoholic patients familial sideroblastic anemias and Cooley s anemia. 

Repeated blood transfusions, e.g., in Cooley s anemia or sickle cell disease. 

Hereditary hemochromatosis, an autosomal recessive defect in which there is increased rate of absorption of iron in the presence of normal or enlarged iron stores and normal hematopoiesis (discussed later). 

High dietary iron and substances that enhance its absorption (e.g., Bantu siderosis). 

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Storage disorders Storage hardening Storage media Storage stability Storage tankage... 

Heriditary lysosomal storage disorder with an heterer-ogeneous clinical presentation including mental retardation and skeletal changes. The disease is caused by... 

Mucolipin, also known as mucolipin 1 or mucolipidin (encoded by the MCOLN1 gene), is a TRP channel-related membrane protein, most probably residing in intracellular membranes. Is defective in mucolipidosis type IV disease, a developmental neurodegenerative disorder characterized by lysosomal storage disorder and abnormal endocytosis of lipids. The fimction of mucolipin is unknown. 

CYP27A1 catalyzes the side chain oxidation (27-hydroxylation) in bile acid biosynthesis. Because bile acid synthesis is the only elimination pathway for cholesterol, mutations in the CYP27A1 gene lead to abnormal deposition of cholesterol and cholestanol in various tissues. This sterol storage disorder is known as cerebrotendinous xanthomatosis. CYP27B1 is the 1-alpha hydroxylase of vitamin D3 that converts it to the active vitamin form. The function of CYP27C1 is not yet known. 

Sialin was first identified as the product of the gene defective in sialidosis, a lysosomal storage disorder. The transporter mediates the movement of sialic acid out of lysosomes by coupling to the proton electrochemical gradient across the lysosomal membrane. Unlike the vesicular neurotransmitter transporters which are antiporters, sialin is a sympoiter with sialic acid and protons both moving out of the lysosome. 

H. Liedtke and G. Legler, in R. Salvayre, L. Douste-Blazy, and S. Gatt (Eds.), Lipid Storage Disorders, Plenum Press, New York, 1988, pp. 353-358. 

Du Z and Bramlage W J (1995), Peroxidative activity of apple peel in relation to development of post-storage disorders , Hortic Sci, 30, 205-209. 

Recently, imino sugars have found application as active site specific chaperones (ASSC) for the treatment of lysosomial storage disorders.65 An ASSC is a small molecule that bind the catalytic domain of an enzyme inducing the regeneration of the active conformation of misfolded proteins. 

J.-Q. Fan, Imino sugars as active site specific chaperones for the treatment of lysosomial storage disorders, in Imino sugars from Synthesis to Terapeutic Applications, ed. P. Compain and O. Martin, Wiley, 2007, pp. 225-247. 

Other complex, neutral oligosaccharides that have been fractionated by l.c. techniques include those found in human milk > and in urine from patients with lysosomal-storage disorders. ... 

The answer is G. The patient s symptoms are consistent with a lysosomal storage disorder of a progressive type. The appearance of features rather late in life encompassing... 

Zellweger syndrome Is a llpid storage disorder caused by impaired peroxisome biogenesis due to deficiency or functional defect of one of eleven proteins involved in the complex mechanism of peroxisomal matrix protein import and assembly of the organelle. 

The activity of the enzyme in cancer tissue has been measured,11 and changes in its activity in vaginal fluid have been examined as a possible diagnostic aid in cervical cancer.29 Low levels in human tissues have been associated with a storage disorder resembling Hurler s syndrome.18,183... 

Hall CW, Liebaers I, Di Natale P, Neufeld EF (1978) Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol 50 439-456... 

Kresse H, von Figura K, Klein U, Glossl J, Paschke E, Pohlmann R (1982) Enzymic diagnosis of genetic mucopolysaccharide storage disorders. Methods Enzymol 83 559-572... 

Genetic defects in the degradation of glycoproteins are representative of lysosomal storage disorders. Each disease is caused by a deficiency of a lysosomal hydrolase, accumulation and urinary excretion of substrates, a progressive clinical course and considerable phenotypic variation. These disorders also manifest the clinical symptoms normally associated with genetic mucopolysaccharidoses, namely coarse facies, dysostosis multiplex and/or ocular involvement. 

Free sialic acid storage disorders, SASD ... 

Cardo PP, Lombardo C, Gatti R (1985) A simple detection of sialic acid storage disorders by urinary free and total sialic acid determinations. Clin Chim Acta 150 129-135 Denny PC, Denny PA, Allerton SE (1983) Determination of sialic acid using 2-thiobarbituric acid in the absence of hazardous sodium arsenite. Clin Chim Acta 131 333-336... 

Table 4.4.1 Enzyme and protein deficiencies and the associated sphingolipid storage disorders. D Dried blood spot, F fibroblasts, L leukocytes,... 

NPC1 257220 NPC1 protein F Complex (glyco-sphingo-)lipid storage disorder ... 

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