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
Sign In
Advertise with Us


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

Download Mobile App


ATTENTION: Due to the COVID-19 PANDEMIC, many events are being rescheduled for a later date, converted into virtual venues, or altogether cancelled. Please check with the event organizer or website prior to planning for any forthcoming event.
20 Oct 2021 - 22 Oct 2021
21 Oct 2021 - 24 Oct 2021
Virtual Venue

Breath Test Determines Severity of Methylmalonic Acidemia Disease

By LabMedica International staff writers
Posted on 20 Apr 2021
Print article
Image: The BreathID Exalenz device (Photo courtesy of Meridian Bioscience)
Image: The BreathID Exalenz device (Photo courtesy of Meridian Bioscience)
Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. 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
Meridian Bioscience

Gold Supplier
Automated Digital Cell Morphology Analyzer
Silver Supplier
TBI Blood Test
i-STAT TBI Plasma Test
High Throughput Molecular Testing Solution
Panther Scalable Solutions
Real Time PCR Platform

Print article


Molecular Diagnostics

view channel
Image: The QuikRead go iFOBT is an immunochemical fecal immunochemical test for detection and quantification of human hemoglobin in feces in case of suspected bleeding from the lower gastrointestinal tract (Photo courtesy of Aidian)

Fecal Immunochemical Tubes Sourced to Analyze Gut Microbiome for CRC

Colorectal cancer (CRC) is a challenging public health problem which successful treatment depends on the stage at diagnosis. Recently, CRC-specific microbiome signatures have been proposed as a marker... Read more


view channel
Image: Bone marrow aspirate from a patient with peripheral T-cell lymphoma (Photo courtesy of Peter Maslak, MD)

Mutation Analysis Links Angioimmunoblastic T-Cell Lymphoma to Clonal Hematopoiesis

Peripheral T-cell lymphoma (PTCL) is a heterogeneous group of lymphoid tumors and encompass peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), angioimmunoblastic T-cell lymphoma (AITL), and... Read more


view channel
Image: GastroPanel Quick Test (Photo courtesy of Biohit Healthcare)

Biohit’s Innovative GastroPanel Quick Test Receives CE Mark

Biohit Healthcare’s (Helsinki, Finland) GastroPanel Quick Test, the latest innovation in its unique GastroPanel product family, is now CE marked. The GastroPanel Quick Test is intended for diagnosing... Read more
Copyright © 2000-2021 Globetech Media. All rights reserved.