ST3GAL3 Deficiency is a rare disorder that results in a deficiency of the ganglioside GM3.
Chromosome: 2p11.2
Gene: ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Inheritance: autosomal recessive
The patient is typically normal at birth.
Clinical features:
(1) profound intellectual disability
(2) failure to thrive
(3) infantile onset epilepsy
(4) choreoathetosis
(5) visual impairment
(6) deafness
(7) ichthyosis or "salt and pepper" skin pigmentation
(8) variable behavioral problems
(9) delays in motor development
(10) microcephaly
