Genetic Abnormalities of Sulfohydrolases

In recent years sulfohydrolases have attracted considerable attention because of their involvement in several human genetic disorders (Table 7). We will now discuss the enzymic aspects of diseases associated with the abnormal activities of sulfohydrolases. 

Metachromatic leukodystrophy (MLD) is a human sphingolipidosis characterized by marked disintegration of the myelin sheath of the nerve cell and 

Disorder Accumulated product Enzyme deficiency Primary tissue involved 

Maroteaux-Lamy Etermatan sulfate Arylsulfohydrolase B Brain, bone 

Hunter s syndrome Dermatan sulfate Iduronate sulfohydrolase Brain, bone 

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