CDGIL is a multisystem disorder caused by a specific defect in glycoprotein biosynthesis. It is characterized by severe microcephaly, hepatomegaly, and bronchial asthma. Other features include defects in the nervous system, such as development delay and psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, seizures, and immunodeficiency. Brain MRIs of affected patients may reveal volume loss in the cerebral hemispheres and cerebellum and delayed myelination. Some patients may also present with bipolar affective disorder.
CDGIL patients require life-long treatment and support. The treatment is focused on symptoms and may include physical therapy, and educational aids. Anti-epileptic medications are administered in the case of seizures. Researchers are studying gene therapy as an approach to therapy for individuals with CDGs or related disorders. In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of the active enzyme and prevent the development and progression of the disease in question. However, gene therapy is still in a nascent stage and treatment options using gene therapy are not popularly available.