[Medicinal therapy for lysosomal storage diseases].

Abstract

Lysosomes contain several dozen different enzymes, mostly acid hydrolases. Materials not digested due to deficient lysosomal enzymes are usually large cellular molecules, which are deposited within the cells. The strategy for medicinal therapy of lysosomal storages disease may be to develop the activators of enzymes, to promote coenzyme and cofactor supplementation and to eliminate undegraded materials from blood into urine. In the last several decades, many trials for these strategies has been done. Cysteamine for cystinosis and penicillamine for Wilson's disease has proved useful in treating these patients. Recently, DMSO has been proved to be an activator of acid sphingomyelinase and to accelerate the intracellular mobilization of LDL-derived cholesterol. We treated patients with Niemann-Pick disease type C by oral administration of DMSO, resulting in some clinical benefits such as decreased size of hepatosplenomegaly, and lesser frequency of seizures with improved EEG. However, the progressive clinical course has not been changed although it appeared to slow down. New activators of lysosomal enzymes should be developed for medicinal therapy of lysosomal storage diseases.

• Authors: N Sakuragawa
• Journal: Nihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 53 Issue 12 Pg. 3072-6 (Dec 1995) ISSN: 0047-1852 [Print] Japan
• PMID: 8577061 (Publication Type: Case Reports, English Abstract, Journal Article, Review)

Chemical References

• Dichloroacetic Acid
• Vitamin B 12
• Glycine
• Dimethyl Sulfoxide

Topics

• Child
• Dichloroacetic Acid (therapeutic use)
• Dimethyl Sulfoxide (therapeutic use)
• Female
• Glycine (administration & dosage)
• Humans
• Lysosomal Storage Diseases (drug therapy)
• Vitamin B 12 (administration & dosage)