COMMON GENETICS AND METABOLIC DISEASES IN SAUDI ARABIA

These diseases are clinically recognizable through certain symptoms and signs which are summarized in table II.

Their early recognition is important to initiate treatment and to prevent neurologic crippling. The treatment of storage diseases is experimental and is either through administration of purified enzymes (Ceredase-Gaucher) or bone marrow transplantation (Gaucher type II, Niemann Pick-B, Morquio's disease A). The therapeutic modalities of the other treatable diseases are shown in Table III.

A review of these tables indicates that a large number of these genetic metabolic disorders can be recognized in a clinical setting and have treatment modalities. However, treatment is either difficult or expensive or unavailable in most centers. Therefore, prevention is of utmost importance.

References

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