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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.
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 ...
Fetal-maternal haemorrhage is the loss of fetal blood cells into the maternal circulation. It takes place in normal pregnancies as well as when there are obstetric or trauma related complications to pregnancy. Normally the maternal circulation and the fetal circulation are kept from direct contact with each other, with gas and nutrient exchange ...
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 ...
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [ 2 ] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their products.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [ 1 ] Work on ICD-10 began in 1983, [ 2 ...