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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 …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… The Metabolic Medicine Branch (MMB) houses clinical and … the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic Medicine Branch involves interconnected laboratory …
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
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. Problems … their behavior and pay attention to tasks. … 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, …