storage disease


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

storage disease

[′stȯr·ij di‚zēz]
(medicine)
Metabolic abnormality in which some substance (such as fats, proteins, or carbohydrates) accumulates in abnormal amounts in certain body tissues.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Glycogen storage disease type 1 (GDH 1) is a metabolic disease which occurs as a result of dysfunction in glucose 6 phosphatase (G6Paz) system.
In conclusion, although CDS is a rare lipid storage disease, it should be a consideration in every patient with congenital ichthyosis, especially those with extracutaneous signs, as a simple peripheral smear can establish the diagnosis.
In lysosomal storage diseases like MPS I, enzymes needed to dissolve debris are missing, allowing debris to build up in cells until they malfunction.
He was remitted at 8 years of age to the Biochemistry unit due to family history of glycogen storage disease (first case).
{CT}: Right now, the technology is becoming available and there is a whole push to get a number of lysosomal storage diseases as part of the newborn screening panel.
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis.
Desnick, chairman of the department of human genetics at Mount Sinai Medical Center in New York, and a collaborator on the study A similar reversal of pathology has also been seen with enzyme replacement used to treat another lysosomal storage disease, Gaucher's disease.
Type I Glycogen Storage Disease is a deficiency of the enzyme glucose -6 - phosphatase which helps in maintaining a normal blood glucose (sugar concentration) during fasting.
Eden Research PLC's (LON:EDEN) fungicide, Mevalone, has been granted 120-day "emergency use" authorisation in France for the treatment of storage diseases on apples.
ABO-202 is a novel, one-time AAV9 gene therapy for patients with CLN1 disease, a rapidly-progressing rare lysosomal storage disease with no approved therapy.
Pompe disease (glycogen storage disease Type II, acid maltase deficiency, and OMIM #232300) is a rare, progressive, autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation-specific DNA test are described.