Quantitative profiling of 23 acylcarnitine species covering short-, medium-, and long-chain forms. Performed by LC-MS/MS from dried blood spot.
This panel enables detection and monitoring of inborn errors of metabolism affecting fatty acid oxidation, organic acid metabolism, and the carnitine shuttle system.
Clinical indications include:
| Analyte / Group | Components | Clinical Significance |
|---|---|---|
| Free carnitine (C0) | L-carnitine | Carrier molecule for fatty acid transport into mitochondria |
| Short-chain (C2–C5) | Acetylcarnitine, propionylcarnitine, and others | Reflect short-chain fatty acid and organic acid metabolism |
| Medium-chain (C6–C12) | Hexanoylcarnitine through dodecanoylcarnitine | Elevated in MCAD and other medium-chain oxidation defects |
| Long-chain (C14–C18:1) | Palmitoylcarnitine, oleoylcarnitine, and others | Elevated in VLCAD, LCHAD, and carnitine transport defects |
Acylcarnitines are formed when carnitine conjugates with acyl-CoA intermediates of fatty acid and organic acid metabolism. Their profile in blood provides a metabolic snapshot of mitochondrial function, particularly fatty acid beta-oxidation.
Individual acylcarnitine species measured simultaneously
Core component of expanded newborn screening programmes
Reflects mitochondrial fatty acid oxidation capacity
Acylcarnitine profiling is a cornerstone of newborn screening programmes worldwide. Characteristic elevations of specific acylcarnitine species can identify disorders such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and multiple acyl-CoA dehydrogenase deficiency (MADD) before clinical symptoms manifest.
Beyond newborn screening, acylcarnitine profiling supports diagnosis of organic acidurias, carnitine transport defects, and secondary carnitine deficiency associated with medications such as valproic acid or pivalic acid-containing antibiotics.
The test is performed using flow-injection analysis with tandem mass spectrometry (FIA-MS/MS), the standard approach used in newborn screening laboratories worldwide. Butylated acylcarnitine esters are analysed by precursor ion and neutral loss scanning, providing rapid, multiplexed quantification of all 23 species.
DBS is the standard matrix for acylcarnitine profiling, enabling integration with existing newborn screening workflows and remote collection for monitoring purposes.
Acylcarnitines is an important biomarker for newborn screening for fatty acid oxidation disorders. Masdiag measures acylcarnitines using validated analytical methods to provide clinically actionable results.
Acylcarnitines testing is valuable for Newborn screening for fatty acid oxidation disorders, Diagnosis and monitoring of organic acidurias. Understanding acylcarnitines levels helps inform personalized health optimization and clinical decision-making.
Acylcarnitines collection is simple and convenient: prick your finger at home to collect a dried blood spot (DBS). This allows remote sampling without venepuncture.
This test is recommended for individuals interested in newborn screening for fatty acid oxidation disorders. Masdiag acylcarnitines testing helps guide personalized supplementation and health optimization strategies based on objective biomarker data.
Acylcarnitines results provide insight into your metabolic status and newborn screening for fatty acid oxidation disorders. Combined with clinical context, Masdiag results inform evidence-based interventions for personalized health optimization.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.