Ch3

ß-oxidation

CH3 Pristanoyl-3 CoA

CO-CoA

Acetyl-CoA

Fig. 7.24 The normal metabolism of phytol.

utero. Once the deficiency has been established, a possible treatment is enzyme replacement therapy. Thus, patients with Fabry's disease (Table 7.10) can be infused with normal plasma to provide active enzyme (P-galactosidase) for the hydrolysis of the substrate (Gal-Gal-Glu-ceramide) that accumulates in the plasma of these patients. Maximum enzyme activity occurs in six hours after infusion of the plasma and is detectable for seven days. The accumulated substrate decreases about 50% on the tenth day after infusion.

Another method involves the encapsulation of the appropriate enzymes in liposomes (Section 6.5.13) that can be targeted to the appropriate tissue. However, because of brain involvement in many sphingolipidoses, the use of liposomes is inappropriate owing to the 'blood-brain barrier' which prevents their uptake.

The sphingolipidoses are recessive diseases and heterozygous individuals have 50% of the normal enzyme levels in their tissues. This allows white blood cells to be tested and genetic counselling can then be given to carriers who wish to start families.

In the future it may also be possible to use gene therapy.

Other examples of lipid storage diseases (involving fatty acid oxidation) were discussed before (Section 2.3) and include problems with P-oxidation in both mitochondria and peroxisomes.

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