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

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.
References in periodicals archive ?
The increase in information about glycogen storage disease 1a and GSD 1b and in the rate of determination of mutation gave the idea of diagnosing GSD 1a and GSD 1b with mutation analysis together with clinical and biochemical abnormalities instead of enyzmatic measurement by liver biopsy which is an invasive method.
Glycogen storage disease type I-between chronic ambulatory follow-up and pediatric emergency.
Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease. Liver Transpl Surg.
Frequency of glycogen storage disease type II in the Netherlands: Implications for diagnosis and genetic counselling.
Patients and Methods: Confirmed cases of glycogen storage disease (clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy) were enrolled in this study from neonatal age till 18 years.
A diagnosis of glycogen storage disease was made as a result of histopathologic examination by liver needle biopsy in the patients who were being followed up in Akdeniz University Medical Faculty, Division of Pediatric Gastroenterology, Hepatology and Nutrition.
Autoimmune hepatitis formed 19% of the diagnosis above two years of age, second only to glycogen storage disease. One five year old boy had Sickle thalassemia, cholestasis, the liver histology showed a picture of chronic immune hepatitis.
After an odyssey of visits to specialists and an incorrect diagnoses of mucopolysaccharidosis (MPS), (a genetic metabolic storage disease, and cerebral palsy), Scott was finally diagnosed correctly.
These genetically engineered animals, now able to make their own beta-glucuronidase, show no signs of the storage disease. Details of the work appear in the May PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES (Vol.87, No.10).
The first disclosed indication under the collaboration is Glycogen Storage Disease Type III, and an Investigational New Drug application for this mRNA therapeutic program, UX053, is expected to be filed in 2020.
Following the US FDA's Fast Track designation, the leading international gene therapy and lysosomal storage disease centres will now participate in the Phase I/II clinical trial for RGX-121 for the treatment of MPS II.