storage diseases


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splenomegaly

Enlarged spleen Enlargement of spleen for any reason, which is usually a manifestation of underlying disease; the only specific finding in splenomegaly is dragging sensation in the upper right quadrant; megalic spleens may reach 4.0+ kg–eg, in agnogenic myeloid metaplasia
Splenomegaly
Congestion Cirrhosis, CHF, thrombosis of portal or splenic veins
Infection
• Bacteria Brucellosis, infective carditis agents, syphilis, TB, typhoid fever
• Fungi Histoplasmosis
• Parasites Echinococcosis, leishmaniasis, malaria, schistosomiasis, toxoplasmosis, trypanosomiasis
• Viruses CMV, EBV
Inflammatory/immune-related Rheumatoid arthritis, SLE
Hematopoietic disease/Lymphoid function
• Malignant Leukemias, eg ALL, CLL, myeloproliferative disorders–eg agnogenic myeloid metaplasia, CML, multiple myeloma, polycythemia vera; lymphomas–Hodgkin's disease, NHL
• Nonmalignant Hemolytic anemia, histiocytosis, ITP
Storage diseases Gaucher's disease, mucopolysaccharidosis, Niemann-Pick disease
Etc Amyloidosis, cysts, hypersplenism, metastases, primary tumors

storage diseases

A range of metabolic disorders in which various substances accumulate in abnormal amounts in certain body tissues or organs such as the liver. See also SPHINGOLIPIDOSES.
References in periodicals archive ?
A gene panel that contains 142 neuromuscular disorder-related genes, including 15 genes responsible for glycogen storage disease, was used for next-generation sequencing.
et al, High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
Summary: TEHRAN (FNA)- Researchers have overcome a major challenge to treating brain diseases by engineering an experimental molecular therapy that crosses the blood-brain barrier to reverse neurological lysosomal storage disease in mice.
The research is especially promising because we enhanced the cellular folding and function of mutated lysosomal enzymes, whose deficient function is linked to lysosomal storage diseases, using two distinct categories of FDA-approved drugs that have been shown to be safe and effective for the treatment of high blood pressure and muscle spasms," he added.
Glycogen storage disease (GSD) or glycogenosis include hereditary diseases caused by abnormalities of the enzymes that regulate the synthesis and degradation of glycogen.
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.
The molecular basis of lysosomal storage diseases and their treatment.
The recombinant lysosomal enzymes produced in accordance with the invention may be used for a variety of purposes, including but not limited to enzyme replacement therapy for the therapeutic treatment of human and animal lysosomal storage diseases.
Existing in vivo models, such as those for stroke or lysosomal storage diseases, may also prove useful for studying the structure and dynamics of the BBB.
Since inception in 1997, BioMarin has applied its proprietary enzyme technology to develop products for lysosomal storage diseases and for the treatment of serious burns.
There is a pipeline of treatments that will soon become available for a variety of rare, lysosomal storage diseases," such as Niemann-Pick disease and Pompe's disease, Dr.