[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, depending on symptoms and age of onset:

-        neonatal (most severe): resembling mucopolysaccharidosis, leading to death at around one year of age. Intrauterine growth  retardation and respiratory distress at birth, facial dysmorphism, skeletal anomalies, splenomegaly, congenital heart defects, ichthyosis and muscular hypotonia are observed.

-        infantile (most common): onset before 2 years of age, resembling metachromatic leukodystrophy. Developmental delay, mild facial dysmorphism, organomegaly, dysostosis multiplex and ichthyosis of varying degree.

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

Mild forms evolve more slowly, and not all clinical signs are necessarily present. Patients are often able to walk and talk before neurocognitive decline begins. Retinopathy, biliary sludge, hydrocephalus, hypertrichosis, dysostosis multiplex and neuropathy can occur at any stage of the disease.

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: September 2024