Urea Cycle News and Research

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Urea cycle disorders are congenital diseases that are caused by a dysfunctional urea cycle. The genetics and biochemistry of these disorders have been extensively studied. They are the result of a deficiency of one of the six enzymes that catalyze the various biochemical reactions in the urea cycle which converts ammonia to urea for removal via urine.

Scientists discover how excess dietary salt drives 'lean MASH'

Fatty liver disease is commonly associated with obesity, yet a growing number of people with normal body weight develop a severe form of the condition.

29 Sep 2026

New treatment option approved in Japan for rare genetic liver disorders

A new indication for an existing drug has been approved in Japan to treat patients with progressive familial intrahepatic cholestasis (PFIC) types 1 and 2, a group of rare genetic liver disorders.

15 Sep 2026

Combining gene and biomarker screening for newborn health

For more than six decades, biomarker-based newborn screening has played a pivotal role in reducing infant mortality and long-term disability by enabling early detection of metabolic and endocrine disorders.

23 Feb 2026

Two harmful gene variants can combine to restore normal protein function

In a groundbreaking study published in the in Proceedings of the National Academy of Sciences (PNAS), scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two harmful variants in the same gene always worsens disease.

12 Jan 2026

Scientists map gut microbiota associated with coronary artery disease

Nearly 20 million people die every year from cardiovascular diseases, the leading cause of death worldwide.

6 Nov 2025

NUCDF launches national project to advance urea cycle disorder research

The National Urea Cycle Disorders Foundation, the leading patient advocacy group for people affected by urea cycle disorders (UCDs), today announced the launch of a two-year national project to establish the multistakeholder NUCDF Partner Network and develop a roadmap for future research in these rare disorders.

19 Jun 2025

Personalized gene editing corrects fatal infant metabolic disorder in world-first treatment

Researchers have used a personalised base-editing gene therapy to successfully treat an infant with carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a rare and life-threatening inborn error of metabolism. This pioneering approach chemically corrects the underlying mutation without cutting DNA, showing promise for precision treatment of ultrarare genetic disorders.

20 May 2025

Customized CRISPR gene editing therapy successfully treats infant with rare disease

In a historic medical breakthrough, a child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy by a team at Children's Hospital of Philadelphia (CHOP) and Penn Medicine.

15 May 2025

Breakthrough method creates functional liver organoids

While organoids aim to mimic human organs, the liver's repertoire of complex functions – and thus the energy it needs to operate – have made it challenging for researchers to grow organoids that proliferate and fully function, says Sato. When prioritizing growth and survival in laboratory settings, hepatocytes, the liver's main cells, eventually transformed into cells resembling cholangiocytes, which line the bile duct.

16 Apr 2025

Scientists identify critical enzymes for astrocytic GABA production in Alzheimer’s disease

A research team at the Institute for Basic Science (IBS) has identified a previously unknown enzyme, SIRT2, that plays a key role in memory loss associated with Alzheimer's disease (AD).

14 Apr 2025

Existing drug could prevent liver damage caused by ammonia build-up

High levels of ammonia kill liver cells by damaging the mitochondria that power the cells. But this can be prevented using an existing drug due to start clinical trials, finds a new study in mice led by researchers from UCL.

7 Mar 2025

p53 mutations show diverse impact on pancreatic cancer metabolism

A research team at the University of Konstanz, led by toxicologist Ivano Amelio, has demonstrated how differently individual mutations of the tumor suppressor p53 affect pancreatic carcinomas.

6 Dec 2024

Grant supports gene-editing research for rare metabolic diseases

A $14M grant will fund research on gene-editing therapies for rare metabolic diseases at the Perelman School of Medicine at the University of Pennsylvania (Penn) and Children's Hospital of Philadelphia (CHOP).

10 Oct 2024

Study reveals new insights into urea cycle's role in fatty liver disease

An Indiana University School of Medicine physician scientist is making strides in understanding the molecular origins of fatty liver disease, a leading cause of liver failure in the United States.

16 Aug 2024

Diet-derived molecules identified as main drivers of young-onset colorectal cancer risk

A new Cleveland Clinic study has identified diet-derived molecules called metabolites as main drivers of young-onset colorectal cancer risk, especially those associated with red and processed meat.

14 Aug 2024

IU research sheds light on urea cycle defects and fatty liver disease

An Indiana University School of Medicine physician scientist is making strides in understanding the molecular origins of fatty liver disease, a leading cause of liver failure in the United States.

13 Aug 2024

Harnessing immune enhancement to combat drug-resistant tuberculosis

Experts are working on novel immune-enhancing therapies called host-directed therapies to use the body's own immune system to target tuberculosis, with hopes that they could tackle even the drug-resistant forms of the disease.

26 Apr 2024

Emerging trends in wearable breath sensors aim at personalized healthcare solutions

Using wearable breath sensors to monitor respiratory parameters such as temperature, airflow, and humidity, and to detect various respiratory biomarkers.

26 Mar 2024

A computational model identifies metabolites associated with Parkinson's disease

Researchers identify significant metabolites involved in the development and progression of Parkinson’s disease.

15 Aug 2023

New discovery can revolutionize the diagnosis and treatment of Alzheimer's disease

Recently, a team of South Korean scientists led by Director C. Justin LEE of the Center for Cognition and Sociality within the Institute for Basic Science made a new discovery that can revolutionize both the diagnosis and treatment of Alzheimer's Disease.

17 Apr 2023