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Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. inborn errors of metabolism (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 …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… the blood of a chemical known as phenylalanine. … genetic disorders
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 … an electronic catalog of human genes and genetic disorders, developed by the national center for biotechnology … … about trimethylaminuria … trimethylaminuria is a metabolic condition in which an individual is not able to …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… disease. mitochondrial diseases are a group of disorders caused by problems with the cell’s ability to … not able to provide a "first time" diagnosis or regular metabolic care. … once you contact our team members, you will … studies such as a dexa or mri scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… increased risk of developing parkinson disease and related disorders. … the diagnosis of gaucher disease is based on … glucocerebroside cannot be adequately degraded. … genetic disorders
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acidemia study will evaluate patients with mma and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated … and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… branch (mgb) seeks to identify and understand inherited disorders of metabolism and of human development. mgb … embryology, inborn errors of metabolism , and neurogenetic disorders . … projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the nih clinical center. to achieve their goals, …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process certain … acidemia (mma) refers to a group of inherited disorders in which the body is unable to process certain … 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 … in post-menopausal, obese women of middle age. … genetic disorders
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 … emotional disturbance and cognitive decline. … genetic disorders