Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant … they also have the disorder. We recommend talking to your metabolic specialist and/or genetic counselor to determine … based (1) the position of the defective enzyme within the metabolic pathway and (2) whether or not there is any …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … … About Trimethylaminuria … Trimethylaminuria is a metabolic condition in which an individual is not able to … Treating A Genetic Disease … Trimethylaminuria is a metabolic condition in which an individual is not able to …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the rate of progression of HD or correct or replace other metabolic defects contributing to the development and … discovered how the genetic mutation alters chemical pathways to cause the disease. By identifying these changes, …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… most patients with cblA and cblB show clinical and metabolic improvement with supplementation with a form of …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… of its symptoms rather than as a physiologic or metabolic process. The fatty deposits (lipomas) cause nerve …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… loss caused by damage to the inner ear or to the nerve pathways from the inner ear) have been noted in some …