storage disease


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Related to storage disease: Lipid storage disease, glycogen storage disease

storage disease

 
any metabolic disorder in which some substance (such as a fat, protein, or carbohydrate) accumulates in certain cells in abnormal amounts.

stor·age dis·ease

a generic term that includes any accumulation of a specific substance within tissues, generally because of congenital deficiency of an enzyme necessary for further metabolism of the substance; for example, glycogen-storage diseases.

storage disease

a metabolic disorder in which certain cells accumulate excessive amounts of lipids, proteins, or other substances.

storage disease

Hematology A condition, often designated 'inborn errors of metabolism,' in which a defective or functionally absent enzyme causes organ dysfunction through accumulation of precursor substances derived from the metabolism of glycogen, amino acids, often within lysosomes; each has a relatively distinct pattern of organ involvement–eg, in glycogen storage disease, the excess substances compromise the liver, skeletal muscle and cardiac muscle. See Brancher disease, Debrancher disease.

stor·age dis·ease

(stōr'ăj di-zēz')
Any accumulation of a specific substance within tissues, generally because of congenital deficiency of an enzyme necessary for further metabolism of the substance (e.g., glycogen-storage diseases).

stor·age dis·ease

(stōr'ăj di-zēz')
Generic term that includes any accumulation of a specific substance within tissues.

storage disease

any metabolic disorder in which some substance (e.g. fats, proteins or carbohydrates) accumulates in certain cells in abnormal amounts; called also thesaurismosis, thesaurosis.

lipid storage disease
any disorder of cellular metabolism that results in accumulation of lipids in tissues, e.g. gangliosidosis, sphingomyelinosis, gaucher's disease, globoid cell leukodystrophy, metachromatic leukodystrophy. Called also lipidosis.
lysosomal storage disease
any inborn error of metabolism in which the deficiency of a lysosomal enzyme results in the accumulation of the substance normally degraded by that enzyme in the lysosomes of certain cells. These diseases are further classified, depending on the nature of the stored substance, as glycogen storage diseases (glycogenoses), sphingolipidoses, mucopolysaccharidoses and mucolipidoses.
References in periodicals archive ?
Glycogen storage disease type 1 is a severe autosomal recessive metabolic disease which affects carbonhydrate and purin metabolism.
Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease.
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
A comparison of four regimens for treatment of iron storage disease using the European starling as a model.
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
He notes that MPS VII is "relatively rare" in humans, "but taken together, lysosomal storage diseases represent a significant clinical problem," especially among certain ethnic groups such as Ashkenazi Jews.
When the history, physical examination and laboratory findings were evaluated together, an autosomal recessive storage disease was considered and bone marrow aspiration was performed.
If they store more than this time then storage disease will get spread and then there will be huge loss for exporters," said Shankar Murthy, Auction Officer of International Flower Auction Board.
The FDA in 1953 approved EDTA for use in treating heavy metal poisoning, such as lead poisoning, and a rare copper storage disease called Wilson's disease.
Morquio A syndrome is a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfatase (GALNS).