Late infantile metachromatic leucodystrophy (MLD)

✍ Scribed by Livia N. Rossi; Franco Vassella; Albert Bischoff; Ulrich N. Wiesmann; Norbert Herschkowitz

• Book ID: 104719829
• Publisher: Springer
• Year: 1975
• Tongue: English
• Weight: 852 KB
• Volume: 210
• Category: Article
• ISSN: 0340-5354
• DOI: 10.1007/bf00316530

✦ Synopsis

A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.