Most metabolic disorders are caused by the genetic deficiency of an enzyme that is needed to convert one chemical into another. For example, phenylketonuria, or "PKU," is caused by a deficiency of the enzyme phenylalanine hydroxylase, which converts the dietary amino acid, phenylalanine, into...
These disorders are organized into three major groups: Glycogen metabolism disorders Lipid metabolism disorders Mitochondrial myopathies However, there are some metabolic myopathies that do not clearly fit into any of these groups. Unlike the muscular dystrophies, these disorders often cause dynamic...
The parents of an individual with this disease usually each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. The affected gene is called ARSA, which provides instructions for producing an enzyme called arylsulfutase A. Deficiency of this enzyme results in...
Mitochondrial disorders occur when the mitochondria fail and are not able to produce the energy a cell or tissue needs. This causes cell injury, or even cell death and organ damage.
While the clinical presentation ranges from an almost inability to move to severe constant and excessive movement, they are usually divided into groups primarily with excessive movement (hyperkinetic movement disorders) and those with diminished movements (bradykinetic movement disorders). These...
Multiple Sclerosis (MS)
Multiple sclerosis (MS) is an unpredictable disease of the central nervous system, that can range can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted
A muscular dystrophy is a genetic disorder of muscle. There are dozens of different muscular dystrophies, many of which are rare in the overall population.
Myotonic Muscular Dystrophy
Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (muscles that move the limbs and trunk), as well as smooth muscles (muscles that control the digestive system) and cardiac muscles of the heart.