Research News
New research examines risks, outcomes of seizure activity in patients with inborn errors of metabolism hospitalized with high ammonia and recommends more neuromonitoring
Several recent papers on citrin deficiency are offering new insights into the disease, its prevalence, and currently available treatment options.
An NUCDF grant to the Pacific Northwest Research supported the purchase of equipment for ongoing research into the significance of urea cycle disorder (UCD) variants.
New research shows that female OTC carriers face both symptoms and health risks at higher levels than previously thought. Study authors say they should be monitored to reduce risks and possibly treated.
A new therapy that offers dramatic improvement for patients with the condition has been approved for use in Europe and is currently following the process for approval in the U.S.
In early April, the 2024 NUCDF Family Conference “Legacy of Hope” welcomed 54 families from the U.S., Puerto Rico, Brazil, Peru, El Salvador, and Canada, as well as nearly 40 medical professionals.
By exploiting the technology used in Covid-19 vaccines, a team has created an effective therapy for arginosuccinic aciduria in a study in mice, demonstrating the technology’s potential therapeutic use in people.
A research team exploring the inheritance patterns of late-onset ornithine transcarbamylase deficiency (OTCD) has described two families showing father-to-daughter transmission of the disorder.
A research team has developed a method using yeast genetics to rapidly measure the effects of thousands of variants of a gene that causes human disease, with the aim of improving diagnosis of urea cycle disorders.
Experts from the Urea Cycle Disorders Consortium and the National Urea Cycle Disorders Foundation share what they're learning from the “Longitudinal Study of Urea Cycle Disorders.”
New research finds that the nitric oxide deficiencies common in arginosuccinate lyase deficiency (ASLD) create problems with the blood brain barrier, which is essential to maintaining brain health.
New research explores faster and more accurate diagnosis of urea cycle disorders (UCD), variants of uncertain significance, life with a UCD, and more.
NUCDF and the Urea Cycle Disorders Consortium (UCDC) partner to advance research. Read more about the partnership and current research studies.
NUCDF and the Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC)co-host the 5th International Scientific Symposium on Urea Cycle Disorders, "Mapping Progress: Current Concepts and New Insights in Urea Cycle Disorders," on September 22-24, 2021. Read more.
