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 ?
Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II (in Chinese).
Multidisciplinary management of an obstetric patient with glycogen storage disease type 3.
3 Neutral lipid storage disease was first described by Rosenszajn et al.
A diagnosis of glycogen storage disease type 1a was made with increased amount of glycogen and decreased G6Pase activity in the liver biopsy specimens and/or mutation analysis in the G6Pase gene.
A cause of fatty liver: neutral lipid storage disease with ichthyosis: electron microscopic findings.
MPS I is one of the most common lysosomal storage diseases to affect the central nervous system, which in severe form can become Hurler syndrome.
Health professionals in the field of Lysosomal Storage Diseases (LSD), a collective term for over 50 rare inherited metabolic diseases that mostly affect children, from across the globe attended a conference organised by the Hamad Medical Corporation to discuss the recent advances in basic and clinical aspects of the diseases.
But the team wants to raise awareness of the condition, which often goes undiagnosed, and raise money for the research charity, the Association for Glycogen Storage Disease.
Glycogen storage disease (GSD) or glycogenosis include hereditary diseases caused by abnormalities of the enzymes that regulate the synthesis and degradation of glycogen.
Tifft, MD, PhD, FAAP, FACMG {CT}: In order to describe gangliosidoses, you really need to describe what a lysosomal storage disease is, because gangliosidoses are one of approximately 40 to 50 different lysosomal storage diseases.
Among the possible causes of black thyroid are minocycline-induced pigmentation, hemochromatosis, ochronosis, mucoviscidosis, ceroid storage disease, bruising, and hemorrhage.