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

1. Saudubray JM, Charpentier C. Clinical phenotypes: diagnosis/algorithms. In: Seriver CR, Beaudet AL, Sly WS, Valle D. editors. The metabolic and molecular bases of inherited disease. 7th ed. McGraw Hill, 1995; 327-400.

2. Ozand PT, Gascon GG. Organic acidurais: a review, part 1 and part 2. J Child Neurol 1991; 6:1956-219 and 288-303.

3. Ozand PT, Gascon GG, Al Aqeel A., Roberts G, Dhallaa S, Sarvapelli SB. Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherit Metab Dis 1990; 13: 849-861.

4. Al Aqeel A, Ozand PT, Brismar J, Gascon GG, Brismar G, Nester M, Sakati N. Saudi variant of multiple sulfatase deficiency. J Child Neur, 1992; 7: S12-S21.

5. Al Aqeel A, Ozand PT, Gascon G, Nester M, Al Nasser M, Brismar J, Blau N, Hughes H, Subramanyaaan SB and Reynolds CT. Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neur 1991; 41: 730-737.

6. Sanjad SA, Sakati NA, Abu-Osba YK, Kaddora R, Milner RDG. A new syndrome of congenital hypoparathyroidism, seizure, growth failure and dysmorphic features. Archives of Diseases Childhood 66: 193-196, 1991.

7. Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Mayer BF, Al Aqeel A et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002 Nov; 32(3): 448-52.

8. Al Aqeel AI, Al Sewairi W. Al Aqeel Sewairi Syndrome: an autosomal recessive syndrome with nodular arthropathy and acrolysis. American Journal of Human Genetics, October 1999; 65(4), 750.