NONKETOTIC HYPERGLYCINEMIA

Course overview

NONKETOTIC HYPERGLYCINEMIA IS A RARE, GENETIC, INBORN ERROR OF GLYCINE METABOLISM. DUE TO A MUTATION IN THE GLYCINE CLEAVAGE ENZYME SYSTEM, THE PATIENT IS UNABLE TO BREAK DOWN GLYCINE, RESULTING IN ITS ACCUMULATION THROUGHOUT THE BODY. THE BUILDUP OF GLYCINE PRIMARILY OCCURS WITHIN THE SPINAL CORD AND BRAIN; THUS, THE INITIAL CLINICAL MANIFESTATIONS AND LONG-TERM SEQUELAE FROM THIS CONDITION ARE OFTEN NEUROLOGICAL. NO KNOWN INTERVENTIONS ARE EFFECTIVE IN ALTERING THE NATURAL HISTORY OF NONKETOTIC HYPERGLYCINEMIA, BUT WHATEVER THERAPEUTIC STRATEGIES ARE APPLIED CAN POTENTIALLY REDUCE THE COMORBIDITIES ASSOCIATED WITH THIS CONDITION. IT IS ESSENTIAL THAT THE CLINICIAN RECOGNIZES THIS DISEASE AND INITIATES EARLY EVALUATION AND TREATMENT TO ATTAIN THE BEST POSSIBLE OUTCOME. THIS ACTIVITY REVIEWS THE ASSESSMENT AND MANAGEMENT OF NONKETOTIC HYPERGLYCINEMIA AND HIGHLIGHTS THE INTERPROFESSIONAL HEALTHCARE TEAM'S ROLE IN IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.