Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

ABSTRACT:

Objective

Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed.

Methods

We reviewed 124 patients stratified by developmental outcome for biochemical and molecular predictive factors. Missense mutations were expressed to quantify residual activity using a new assay.

Results

Patients with severe nonketotic hyperglycinemia required multiple anticonvulsants, whereas patients with developmental quotient (DQ) > 30 did not require anticonvulsants. Brain malformations occurred mainly in patients with severe nonketotic hyperglycinemia (71%) but rarely in patients

SUBMITTER: Swanson MA 

PROVIDER: S-EPMC4767401 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature