Multiple Sulfatase Deficiency MSD

Multiple sulfatase deficiency (MSD), a rare autosomal recessive disorder, is caused by deficient activities of arylsulfatase A, B, and C. The mutating gene is located on chromosome 3. Due to these enzyme deficiencies table 9.6

Metachromatic Leukodystrophy


Sulfatide Lipidosis

Cerebroside sulfate ester Arylsulfatase A

Degradation + Acidified products cresyl violet

Brown metachromasia

Cerebroside + SO4

sulfatides, mucopolysaccharide sulfates, steroid sulfates, and gangliosides accumulate in the nervous system and various tissues.

The disease affects neonates, infants, and juveniles. Coarse facial features and skeletal anomalies resembling mucopolysaccharidosis, corneal opacity, deafness, and mental retardation are characteristic clinical features. The pathology combines the features of metachromatic leukodystrophy with those of mucopolysaccharidosis.

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