Phenylketonuria News and Research

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There are 20 essential amino acids in the body. Phenylalanine is one of these. These essential amino acids need to be supplied from external sources such as food. They are termed “essential” as they are needed for the body to function properly and grow normally.

Second-career nursing candidates help solve national staffing shortages

While the usual conversation about our national nursing shortage focuses on how to recruit young people, there is another potential pipeline: people in their 40s and 50s—often pursuing a second career—who are also, in many ways, exactly the nurses that NYU Langone Health needs.

22 May 2026

Genomic sequencing may expand newborn screening beyond biochemical tests

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation sequencing is being explored as a complementary screening tool.

16 Mar 2026

Next-generation sequencing expands possibilities for newborn screening

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge.

4 Feb 2026

Study offers a unified biological model to explain the causes of autism

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum disorder (ASD).

10 Dec 2025

Largest Indian genome study reveals 50,000 years of genetic history

With around 5,000 different ethno-linguistic and religious groups, India is one of the most culturally and genetically diverse countries in the world.

26 Jun 2025

Is aspartame safe for blood sugar? Study answers the big question

A major systematic review and meta-analysis found that aspartame has little to no effect on blood glucose, insulin, or appetite-regulating hormones in humans. Evidence certainty is very low, with no significant long-term metabolic impact identified.

25 Jun 2025

ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency

Updated evidence-based clinical guidelines for phenylalanine hydroxylase deficiency diagnosis and management.

4 Dec 2024

Metformin boosts appetite-suppressing metabolite, new study finds

Metformin treatment boosts levels of Lac-Phe, an appetite-suppressing metabolite, potentially offering new insights into its mechanism and opening doors for obesity treatments.

19 Mar 2024

Gene editing breakthrough could offer new hope for people with phenylketonuria

Phenylketonuria (PKU) is a rare newborn genetic disease that impacts between 1 in 10,000 to 1 in 20,000 people, depending on the individuals' genetic ancestry. PKU causes an amino acid - called phenylalanine (Phe) - to build up in the bloodstream.

2 Nov 2023

Sweet truths: Could blackcurrant and citrus extracts help prevent type 2 diabetes?

In a recent study, European researchers found that blackcurrant (BC) extracts can lower blood sugar levels immediately after meals, but higher doses aren't more effective and fruit fibers don't boost the effect. Despite limitations, the study offers new directions for researching dietary interventions in managing type 2 diabetes and blood glucose levels.

1 Nov 2023

Mozart lullaby may help reduce pain experienced by newborn babies during heel prick blood test

Playing a Mozart lullaby may help reduce the pain experienced by newborn babies undergoing a heel prick blood test, according to a randomized, blinded clinical trial involving 100 infants published in Pediatric Research.

28 Aug 2023

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

A Penn Medicine and Children's Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).

1 Aug 2023

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

Researchers develop point-of-care device to facilitate monitoring of hereditary and hepatic metabolic disorders

Ammonium is a biomarker used to diagnose a series of rare hereditary metabolic disorders, such as the primary disorders of the urea cycle and different organic acidemias, as well as other metabolic and environmental conditions affecting the liver's function, which can cause a secondary dysfunction of the urea cycle.

3 Nov 2022

Using native microbes as chassis for transgene delivery in live bacterial therapeutics

Residing within the human gut are trillions of bacteria and other microorganisms that can impact a variety of chronic human ailments, including obesity, type 2 diabetes, atherosclerosis, cancer, non-alcoholic fatty liver disease and inflammatory bowel disease.

4 Aug 2022

Research suggests potential new treatment strategy for phenylketonuria

Researchers at The University of Texas MD Anderson Cancer Center have discovered a critical new factor in regulating phenylalanine metabolism and, therefore, in preventing the inherited metabolic disorder phenylketonuria (PKU).

5 Aug 2021

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach.

12 Jul 2021

New approach to gene therapy uses common pain reliever to fight against genetic diseases

Researchers have developed a new approach to gene therapy that leans on the common pain reliever acetaminophen to force a variety of genetic diseases into remission.

14 Jun 2021

FDA seeks $6.5 billion for investments in core food safety, critical public health infrastructure

The U.S. Food and Drug Administration is requesting a total budget of $6.5 billion as part of the President's fiscal year (FY) 2022 budget - a nearly 8% ($477 million) increase over the agency's FY 2021 funding level for investments in critical public health infrastructure, core food safety and medical product safety programs and other vital public health programs.

29 May 2021

Researchers use base editing to sustainably lower high LDL cholesterol levels

Base editing is a novel gene editing approach that can precisely change individual building blocks in a DNA sequence.

19 May 2021