Sulfactasa multiple deficiency (MSD) is a hereditary metabolic disorder very little common, caused by the mutation of the gene SUMF1.

The disease is progressive and fatal that affects primarily the central nervous system and causes psychomotor delay as early symptoms. This condition is characterized by multiple deficiencies of sulfatases (enzymes arilsulfatases A, B and C). Currently there is no treatment for their care.

Patients have a neurological box that is manifested by an inability to walk, hyperextension in the knees, abolition of reflexes, generalized weakness, hypotonia (abnormally decreased tone of muscles), seizures, and optic atrophy. It is also linked to a bone involvement, with rough facial features, deafness and abnormalities in the esternon and ribs. Patients become ictiosis (dry and flaky skin) and there is an anomaly of the granulation in leukocytes or white blood cells.

This disease is autosomal recessive pattern with a hereditary genetics. Both copies of the gene in each cell must have the mutation for voice alteration. The parents of an individual with autosomal recessiva, have one copy of the mutated gene, but do not show signs of the disease.