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Peroxisomal Disorders


Overview :

A cell can contain several hundred peroxisomes, which are round or oval bodies with diameters of about 0.5 micron, that contain proteins that function as enzymes in metabolic processes. By definition, a peroxisome must contain catalase, which is an enzyme that breaks down hydrogen peroxide.

Approximately 50 different biochemical reactions occur entirely or partially within a peroxisome. Some of the processes are anabolic, or constructive, resulting in the synthesis of essential biochemical compounds, including bile acids, cholesterol, plasmalogens, and docosahexanoic acid (DHA), which is a long chain fatty acid that is a component of complex lipids, including the membranes of the central nervous system. Other reactions are catabolic, or destructive, and lead to the destruction of some fatty acids, including very long chain fatty acids (VLCFAs, fatty acids with more than 22 carbon atoms in their chains), phytanic acid, pipecolic acid, and the prostoglandins. The peroxisome is involved in breaking down VLCFAs to lengths that the body can use or get rid of.

When VLCFAs accumulate due to abnormal functioning of the peroxisomes, they are disruptive to the structure and stability of certain cells, especially those associated with the central nervous system and the myelin sheath, which is the fatty covering of nerve fibers. The peroxisomal disorders that include effects on the growth of the myelin sheath are considered to be part of a group of genetic disorders referred to as leukodystrophies. While metachromatic leukodystrophy (MLD) usually has its onset in infants or juveniles, there have been reports of its onset in young adults.

There are many other metabolic deficiencies that can occur in those who have peroxisomal disorders, which result in other types of detrimental effects, and together result in the abnormalities associated with the peroxisomal disorders. Unfortunately, it is not known how these abnormalities, and combinations of abnormalities, cause the disabilities seen in those afflicted with the disease.

Peroxisomal disorders form a heterogeneous disease group, with different degrees of severity. Included in the group referred to as PBD are:

  • Zellweger syndrome (ZS), which is usually fatal within the first year of life,
  • neonatal adrenoleukodystrophy (NALD), which is usually fatal within the first 10 years,
  • infantile Refsum disease (IRD), which is not as devastating as ZS and NALD, as the children with this disorder with time and patience can develop some degree of motor, cognitive, and communication skills, although death generally occurs during the second decade of life.
  • rhizomelic chondrodysplasia punctata (RCDP), which in its most severe form is fatal within the first year or two of life. However, survival into the teens has been known to occur. It is characterized by shortening of the proximal limbs (i.e., the legs from knee to foot, and the arms from elbow to hand).
  • Zellweger-like syndrome, which is fatal in infancy, and is known to be a defect of three particular enzymes.

The differences among these disorders are continuous, with overlap between abnormalities. The range of disease abnormalities may be a result of a corresponding range of peroxisome failure; that is, in severe cases of ZS, the failure is nearly complete, while in IRD, there is some degree of peroxisome activity.

In peroxisomal single-enzyme disorders, the peroxisome is intact and functioning, but there is a defect in only one enzymatic process, with only one corresponding biochemical abnormality. However, these disorders can be as severe as those in which peroxisomal activity is nearly or completely absent.

X-linked adrenoleukodystrophy (X-ALD) is the most common of the peroxisomal disorders, affecting about one in 20,000 males. It is estimated that there are about 1,400 people in the United States with the disorder. In X-ALD there is a deficiency in the enzyme that breaks down VLCFAs, which then accumulate in the myelin and adrenal glands. Onset of X-ALD-related neurological symptoms occurs at about five-12 years of age, with death occurring within one to 10 years after onset of symptoms. In addition to physical abnormalities seen in other types of peroxisomal disorders, common symptoms of X-ALD also include behavioral changes such as abnormal withdrawal or aggression, poor memory, dementia, and poor academic performance. Other symptoms are muscle weakness and difficulties with hearing, speech, and vision. As the disease progresses, muscle tone deteriorates, swallowing becomes difficult and the patient becomes comatose. Unless treated with a diet that includes Lorenzo's oil, the disease will result in paralysis, hearing loss, blindness, vegetative state, and death. There are also milder forms of X-ALD: an adult onset ALD that typically begins between the ages of 21 and 35, and a form that is occasionally seen in women who are carriers of the disorder. In addition to X-ALD, there are at least 10 other single-enzyme peroxisomal disorders, each with its own specific abnormalities.




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