Professionals

Clinical features
Individuals with PCYT2-associated disorders can have a variable clinical phenotype, ranging from a quadriparesis with global developmental delay, intellectual disability and epilepsy to a pure spastic paraparesis. MRI studies showed progressive cerebral/cerebellar atrophy and white matter hyperintensities. Visual impairment with cataracts, nystagmus and optic atrophy or skeletal abnormalities have also been reported in these patients.

Prevalence
The prevalence of PCYT2-associated disorders cannot be ascertained because of the limited number of cases identified to date (less than 20 patients worldwide).

Inheritance
PCYT2-associated disorders are inherited in an autosomal recessive manner.