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Multiple Sulfatase deficiency (MSD

Multiple Sulfatase deficiency (MSD

OMIM number: 272200

Comments closing date: 06/03/2019

Multiple sulfatase deficiency (MSD) is a rare autosomal recessive metabolic disorder. It is a deficiency of a whole family of sulfatase enzymes, leading to the accumulation of several compounds in tissues (sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates). The condition mainly affects the brain, skin, and skeleton. In the brain, deterioration of nervous tissue causes leukodystrophy. This leads to movement problems, seizures, developmental delay, and slow growth.

The skin is affected by icthyosis (dry,scaly skin) and hypertrichosis (excess hair growth). The skeletal affects include scoliosis (curvature of the spine), joint stiffness, and dysostosis multiplex (a specific pattern of skeletal abnormalities seen on x-ray). The condition is split into three sub-types (all under the same OMIM number): - neonatal (which is the most severe type and is lethal in the first year of life) - late-infantile (the most common type) - juvenile (which is the rarest type). Aspects of all types are progressive and worsen with time.

Review date: 6 February 2021