We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us

MERIDIAN BIOSCIENCE

Meridian Bioscience manufactures, markets, and distributes diagnostic test kits, purified reagents and biopharmaceuti... read more Featured Products: More products

Download Mobile App




Breath Test Determines Severity of Methylmalonic Acidemia Disease

By LabMedica International staff writers
Posted on 20 Apr 2021
Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. More...
The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families and is one of several conditions called an "inborn error of metabolism."

Methylmalonic acidemia affects about 1 in 80,000 newborns and can lead to the buildup of proteins and fats by affecting their metabolism, and cause kidney, liver, and other disease. Methylmalonic acidemia is a genomic disorder that can be caused by mutations in the methylmalonyl-CoA mutase (MMUT) gene.

A large team of medical genomic scientists at the National Human Genome Research Institute (Bethesda, MD, USA) developed a non-invasive test that gauges disease severity by measuring patients' metabolism though the levels of 1-13C-propionate in their breath. The team administered their test to 57 methylmalonic acidemia (MMA) patients and 16 healthy volunteers to find patients with severe subtypes of the disease had low propionate oxidation levels, while those with less severe disease or who had been treated with liver transplants had near-normal propionate oxidation levels.

Isotopomer enrichment (13CO2/12CO2) was measured in exhaled breath after an enteral bolus of sodium-1-13C-propionate, and normalized for CO2 production. 1-13C-propionate oxidation was then correlated with clinical, laboratory, and imaging parameters collected via a dedicated natural history protocol. Breath samples were collected via disposable breath collection kits (EasySampler Breath Test Kit, QuinTron, Santa Maria, CA, USA) prior to isotope administration, and at specified time points over two hours. A second method, utilizing the BreathID Exalenz device (Meridian Bioscience, Cincinnati, OH, USA) was also employed.

The scientists reported that Lower propionate oxidation was observed in patients with the severe mut0 and cblB subtypes of MMA, but was near normal in those with the cblA and mut forms of the disorder. Liver transplant recipients demonstrated complete restoration of 1-13C-propionate oxidation to control levels. 1-13C-propionate oxidation correlated with cognitive test result, growth indices, bone mineral density, renal function, and serum biomarkers. Test repeatability was robust in controls and in MMA subjects (mean coefficient of variation 6.9% and 12.8%, respectively), despite widely variable serum methylmalonic acid concentrations in the patients.

Charles P. Venditti, MD, PhD, the principal investigator and senior author of the study, said, “Our next goal is to see if this specialized breath test can detect increase in carbon 13 propionate oxidation after gene, mRNA, or genome editing therapies. This way, we can also use this test to measure how effective these treatments are in restoring MMUT function.”

The authors concluded that propionate oxidative capacity, as measured with 1-13C-propionate breath testing, predicts disease severity and clinical outcomes, and could be used to assess the therapeutic effects of liver-targeted genomic therapies for MMA and related disorders of propionate metabolism. The study was published on April 5, 2021 in the journal Genetics in Medicine.

Related Links:
National Human Genome Research Institute
QuinTron
Meridian Bioscience



New
Gold Member
Automatic Hematology Analyzer
DH-800 Series
Portable Electronic Pipette
Mini 96
New
6 Part Hematology Analyzer with RET + IPF
Mispa HX 88
Autoimmune Disease Diagnostic
Chorus ds-DNA-G
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Molecular Diagnostics

view channel
Image: Colorectal cancer under the microscope (Photo courtesy of Adobe Stock)

Unique Microbial Fingerprint to Improve Diagnosis of Colorectal Cancer

Colorectal cancer is the fourth most common cancer in the UK and the second deadliest. New research has revealed that it carries a unique microbial fingerprint, which could help doctors better understand... Read more

Hematology

view channel
Image: New research points to protecting blood during radiation therapy (Photo courtesy of 123RF)

Pioneering Model Measures Radiation Exposure in Blood for Precise Cancer Treatments

Scientists have long focused on protecting organs near tumors during radiotherapy, but blood — a vital, circulating tissue — has largely been excluded from dose calculations. Each blood cell passing through... Read more

Immunology

view channel
Image: The VENTANA HER2 (4B5) test is now CE-IVDR approved (Photo courtesy of Roche)

Companion Diagnostic Test Identifies HER2-Ultralow Breast Cancer and Biliary Tract Cancer Patients

Breast cancer is the most common cancer in Europe, with more than 564,000 new cases and 145,000 deaths annually. Metastatic breast cancer is rising in younger populations and remains the leading cause... Read more

Technology

view channel
Image: Conceptual design of the CORAL capsule for microbial sampling in the small intestine (H. Mohammed et al., Device (2025). DOI: 10.1016/j.device.2025.100904)

Coral-Inspired Capsule Samples Hidden Bacteria from Small Intestine

The gut microbiome has been linked to conditions ranging from immune disorders to mental health, yet conventional stool tests often fail to capture bacterial populations in the small intestine.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.