Search results for “( "Glycogen Storage Diseases" OR "lysosomal storage disorder" OR "glycogen storage disorder")”
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57 results found
Article
Lysosomal storage disorders
Lysosomal storage disorders (LSDs) form a large group of clinical entities, more than forty now described, with the common etiological theme being the presence of dysfunctional lysosomal proteins, with the secondary accumulation of toxic metabolites inside the cellular lysosomes.
Epidemiology
...
Article
Glycogen storage disease
Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen.
Pathology
There are many types of GSD:
type I: von Gierke disease
type II: Pompe disease
type III: Cori or Forbes disease
type IV: Andersen di...
Article
Glycogen storage disease type I
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel.
Epidemiology
It occurs approximately one in every 100,000 live births 2,...
Article
Glycogen storage disease type II
Glycogen storage disease type II, also known as Pompe disease or acid maltase deficiency disease, is an inherited lysosomal storage disorder characterized by abnormal glycogen accumulation within lysosomes. It is a multisystem disorder involving the heart, skeletal muscle and liver. It is caused...
Article
Glycogen storage disease type V
Glycogen storage disease type V, also known as McArdle's disease, is a disorder of glycogenolysis which may not manifest until adulthood.
Clinical presentation
Non-specific symptoms such as back pain or proximal muscle weakness.
Radiographic features
Fatty atrophy of muscles similar to Pompe...
Case
Glycogen storage disease type Ib
Published
12 Dec 2018
95% complete
CT
MRI
Case
Late-onset glycogen storage disease type II - Pompe disease
Published
27 Jul 2022
95% complete
CT
Case
Adult onset glycogen storage disease type 2
Published
26 Jan 2019
77% complete
CT
Article
Danon disease
Danon disease is an X-linked dominant cause of debilitating cardioskeletal myopathy and is a lysosomal storage disorder.
Epidemiology
Although considered rare, the exact incidence is unknown 1.
Clinical presentation
Danon disease is characterized by the triad of 1-4:
cardiomyopathy
the mos...
Article
Hepatic adenoma
Hepatic adenomas, also referred to as hepatocellular adenomas, are benign, generally hormone-induced, liver tumors. The tumors are usually solitary, have a predilection for hemorrhage, and must be differentiated from other focal liver lesions.
Epidemiology
The incidence of hepatic adenomas is ...
Article
Hepatosplenomegaly
Hepatosplenomegaly is simply the simultaneous presence of a pathologically-enlarged liver (hepatomegaly) and spleen (splenomegaly).
Pathology
Etiology
Infection
Many infections can produce a mild concurrent enlargement of the liver and spleen. This list is by no means exhaustive.
viral
EBV...
Article
Adult polyglucosan body disease
Adult polyglucosan body disease (APBD) is a very rare adult-onset form of glycogen storage disease type IV with characteristic clinicoradiological features.
Epidemiology
Adult polyglucosan body disease is considered very rare 1,2, but the exact incidence is not known and it may often be misdia...
Article
Storage disorders
Storage disorders comprise a bewildering collection of inherited metabolic conditions which share the accumulation of a metabolite within various cells in the body due to dysfunction of specific enzymes or transport proteins. Accumulation of metabolites eventually results in cellular and/or orga...
Article
Infiltrative cardiomyopathy
Infiltrative cardiomyopathies are a group of diseases characterized by the deposition of different substances either within the cells or the extracellular space of the myocardium leading first to altered ventricular filling and diastolic dysfunction and eventually to overt systolic dysfunction 1...
Article
Cardiomyopathy (WHO/ISFC 1995 classification)
Cardiomyopathy classification separates the various cardiomyopathies into several subtypes. Cardiomyopathy is defined as a "disease of the myocardium with associated cardiac dysfunction".
It was initially classified according to the 1995 World Health Organizatiοn / International Society and Fed...
Article
Mucopolysaccharidoses
Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysa...
Article
Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is the most common hereditary (autosomal recessive) leukodystrophy and is one of the lysosomal storage disorders. It has characteristic imaging features including peri-atrial and to a lesser extent frontal horns leukodystrophy as well as periventricular periven...
Article
Pulmonary hypertension (2003 classification)
There are numerous causes of pulmonary hypertension, and thus not surprisingly there have been many classification systems.
In 2003, the 3rd World Symposium on PAH met in Venice and produced an updated classification system (this has been further revised in the Dana Point classification of pulm...
Article
Pulmonary hypertension (2013 classification)
In 2013, the 5th World Symposium on pulmonary hypertension took place in Nice, France and modified the classification system for pulmonary hypertension.
The modified system divides pulmonary hypertension into five groups:
group 1: pulmonary arterial hypertension (disorders of the pulmonary ar...
Article
Beta catenin mutated hepatic adenoma
Beta catenin mutated hepatic adenomas are a genetic and pathologic subtype of hepatic adenoma. Their appearance and prognosis are different from other subtypes.
Epidemiology
They are the least common subtype of hepatic adenoma (10-15%). They occur more frequently in men and are associated with...
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