Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metabolic Disorder
Retrieved on:
Thursday, May 4, 2023
Seizure, Journal of Inherited Metabolic Disease, UCDC, Pediatrics, Ornithine transcarbamylase deficiency, American Journal of Human Genetics, Hope, Metabolic disorder, Brain, Child, George Washington University, Bangladesh Technical Education Board, Associate, DSM-IV codes, Science, Human genetics, Children's National Hospital, Disorder, Genetics, American Journal, Data, Metabolism, Patient, Physician, Ammonia, Blood, Risk, OTC, Diagnosis, Gene, Disease, Dietary supplement
SEATTLE, May 4, 2023 /PRNewswire-PRWeb/ -- Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, infants with some genetic diseases appear healthy at birth, but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma—symptoms common to a variety of metabolic disorders. For the physicians charged with their care, it is a race against time to determine which disorder is causing their fragile patient to decline.
Key Points:
- For the physicians charged with their care, it is a race against time to determine which disorder is causing their fragile patient to decline.
- A study published today in the American Journal of Human Genetics describes the tools that the Dudley Lab developed to assess the changes in a genetic sequence (variant) associated with ornithine transcarbamylase deficiency ( OTC deficiency ), a rare, inherited metabolic disorder.
- "We hope that our data will also accelerate the development of new treatments and cures for OTC deficiency."
- The technology built by the Dudley Lab at PNRI offers hope for a brighter future for infants with life-threatening metabolic diseases.