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A glycogen storage disease(GSD, also glycogenosisand dextrinosis) is a metabolic disordercaused by a deficiency of an enzymeor transport proteinaffecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in musclesand/or livercells. [1] GSD has two classes of cause: genetic and environmental.
Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. There are also possibly rarer subtypes, the ...
Gender-affirming surgery (GAS) is a surgical procedure, or series of procedures, that alters a person's physical appearance and sexual characteristics to resemble those associated with their identified gender. The phrase is most often associated with transgender health care and intersex medical interventions, though many such treatments are ...
Clinical manifestations of glycogen storage disease type III are divided into four classes: [3] GSD IIIa, is the most common, (along with GSD IIIb) and which clinically includes muscle and liver involvement; GSD IIIb, which clinically has liver involvement but no muscle involvement; GSD IIIc which clinically affects liver and muscle.
2. I realized that my body is resilient, and I’m capable of doing hard things. I’ve had my fair share of health scares, and I’m so proud of my body for overcoming the challenges. Through all ...
Intersex topics. Intersex medical interventions (IMI), sometimes known as intersex genital mutilations (IGM), [1] are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more typical and to reduce the ...
The real and lasting effects of ageism. The global life expectancy was 71.4 years in 2021, but healthy life expectancy in older age is more than the absence of disease. Things that impact healthy ...
Inflammatory myopathy. Allelic to McArdle disease (GSD-V) is a recently discovered disease that has a pathogenic autosomal dominant mutation in exon 16 of the PYGM gene c.1915G>C (p.Asp639His). Discovered in 2020, it affected 13 members of a family over four generations and has yet to be assigned a GSD number.