Sulfatases, multiple deficiency in

[MIM 272 200]

(Austin disease, mucosulfatidosis, juvenile sulfatidosis)

Incidence: 1/106. Autosomal recessive transmission of a mutation of the SUMF1 gene (sulfatase-modifying factor-1 gene) (3p26). This gene codes for the synthesis of the FGE protein (for formylglycin-generating enzyme) located in the endoplasmic reticulum and which is necessary for post-transcriptional modification (and activity) of the 17 currently known sulfatases. The dysfunction of all the sulfatases (lysosomal or not) results in a fatal lysosomal overload disease.


There are 3 clinical presentations based on the symptoms and the age of onset:


-        neonatal (most severe): which resembles a mucopolysaccharidosis and causes death around one year of age

-        infantile (the most common form): onset before 2 years of age. It resembles a metachromatic leukodystrophy

-        juvenile (rare): onset after 2 years of age with manifestations including hypotonia, coarse facies, deafness, skeletal abnormalities with short stature, ichthyosis, hepatomegaly, progressive neurological regression (with developmental delay) and hydrocephalus.


Treatment is symptomatic.


Anesthetic implications:

in case of a phenotype similar to a mucopolysaccharidosis (see this term): difficulty intubation, echocardiography; in case of ichthyosis (see this term): difficult venous access, difficult securing of the catheters and the tubes, fragile skin. Mental retardation, short stature, hydrocephalus.


References : 

-         Héron N, Guffon  N.
Progrès dans les maladies lysosomales,
In Maladies métaboliques héréditaires, éditeurs Chabrol B & de Lonlay P, Doin 2011, p 25-55


Updated: August 2020