Beta-galactosidase-1 deficiency

Overview

A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.

Symptoms

Some of the symptoms of Beta galactosidase deficiency incude: * Hearing loss * Kyphosis * Platyspondylia * Hyperlordosis * Scoliosis

Treatment

* Drug Therapy - Indication o RX/No effective/definitive treatment yet available * Other Treatments o TX/Genetic counselling