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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.
gsd iii is ar In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both parents need be a carrier), and occurs in about 1 of every 100,000 live births.
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 ...
Glycogen storage disease type V (GSD5, GSD-V), [ 1 ] also known as McArdle's disease, [ 2 ] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [ 3 ][ 4 ] Its incidence is reported as one in 100,000, roughly the same as glycogen storage ...
Endocrinology. Glycogen storage disease type II(GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [ 1 ] which damages muscle and nerve cells throughout the body.
The female body goes through a variety of physical changes during pregnancy, including alterations to the brain. ... this process happens early in development, again during puberty, and pregnancy ...
In obstetrics, gestational age is a measure of the age of a pregnancy taken from the beginning of the woman's last menstrual period (LMP), [ 1 ] or the corresponding age of the gestation as estimated by a more accurate method, if available. Such methods include adding 14 days to a known duration since fertilization (as is possible in in vitro ...
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo diseaseor Glucose transporter type 1 deficiency syndrome, is an autosomaldominantgenetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier.[1] Glucose Transporter Type 1 Deficiency Syndrome has an estimated birth ...