Glutarylcarnitine, also known as C5DC (C5-dicarboxylic), is a specific form of acylcarnitine that plays a key role in the metabolism of amino acids, particularly in the breakdown of lysine and tryptophan. It is part of the broader group of acylcarnitines, which are compounds that facilitate the transport of fatty acids and metabolites into the mitochondria, where they are oxidized to produce energy.
Glutarylcarnitine is measured in the Carnitine and Acylcarnitine panel (usually in µmol/L or nmol/mL), and its levels provide important information about the metabolic processes involving the breakdown of complex molecules. Abnormal levels of C5DC can point to specific metabolic disorders related to the breakdown of certain amino acids and fatty acids.
Normal Range: Typically varies by lab, but the reference range for C5DC is commonly low in healthy individuals. Any significant elevation outside the reference range can be clinically significant.
Elevated levels of Glutarylcarnitine, C5DC, are typically associated with disorders in the metabolism of lysine and tryptophan, most notably in conditions like Glutaric Aciduria Type 1. This rare genetic disorder leads to the accumulation of organic acids like glutaric acid and its derivatives, which includes C5DC. These elevated metabolites can be toxic, particularly to the brain, and can lead to neurological issues such as encephalopathy, developmental delays, and movement disorders.
Glutaric Aciduria Type 1 (GA-1): This inherited metabolic disorder results from a deficiency of the enzyme glutaryl-CoA dehydrogenase, which is essential for the breakdown of glutaryl-CoA, a product of lysine and tryptophan metabolism. As a result, intermediate metabolites like glutarylcarnitine accumulate in the bloodstream, and symptoms can range from acute neurological crises to chronic developmental issues.
Other Metabolic Disorders: Elevated levels of C5DC can also be seen in disorders related to fatty acid oxidation or other organic acidemias, although Glutaric Aciduria Type 1 is the most specific condition linked to this biomarker.
An abnormal elevation in C5DC, when combined with clinical symptoms or other abnormal findings in the Carnitine and Acylcarnitine panel, may prompt further diagnostic testing to confirm or rule out Glutaric Aciduria Type 1 or other metabolic conditions. Early detection is essential for managing the condition and preventing severe neurological damage, typically through dietary interventions and sometimes with specific medications to reduce metabolic load.
In summary, Glutarylcarnitine, C5DC is a significant marker in assessing the integrity of amino acid and fatty acid metabolism. Elevated levels warrant further investigation for potential metabolic disorders, particularly Glutaric Aciduria Type 1, and require careful clinical follow-up.
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Elevated levels of Glutarylcarnitine (C5DC) in the blood often indicate a disruption in the metabolism of lysine and tryptophan, two essential amino acids. This biomarker is most commonly associated with Glutaric Aciduria Type 1 (GA-1), but other metabolic or physiological conditions can also contribute to its elevation. Below is a structured overview of possible causes and their clinical implications.
GA-1 is a rare autosomal recessive metabolic disorder caused by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme plays a critical role in breaking down lysine, hydroxylysine, and tryptophan. A deficiency leads to the accumulation of toxic metabolites such as glutaric acid, 3-hydroxyglutaric acid, and C5DC.
The accumulation of these metabolites, particularly in the basal ganglia of the brain, results in neurotoxicity. This can lead to irreversible damage if untreated.
Neurological Symptoms: Developmental delays, dystonia, seizures, and motor skill deterioration are common. Acute crises are often triggered by febrile illnesses or fasting during early childhood.
Physical Signs: Macrocephaly and cortical atrophy may also be observed.
Elevated C5DC levels on newborn screening.
Urinary organic acid analysis showing increased glutaric acid and 3-hydroxyglutaric acid.
Confirmatory genetic testing for mutations in the GCDH gene.
Dietary Intervention: A low-lysine diet to reduce toxic metabolite production.
Supplements: Carnitine supplementation to prevent secondary carnitine deficiency.
Emergency Protocols: Preventing catabolic stress during illness.
These disorders result from defects in enzymes involved in amino acid metabolism, leading to elevated metabolites such as methylmalonic acid and propionylcarnitine. While C5DC may be elevated, it is not as specific to these conditions as it is to GA-1.
Symptoms include vomiting, lethargy, metabolic acidosis, and failure to thrive. Early diagnosis via acylcarnitine profiling is crucial.
Disorders affecting mitochondrial fatty acid breakdown can lead to elevated C5DC levels due to impaired energy production during fasting or illness. These conditions often present with hypoglycemia, muscle weakness, and metabolic crises.
Acute illnesses or fasting can temporarily elevate C5DC levels as the body mobilizes amino acids and fatty acids for energy production.
High-protein diets may also cause mild elevations.
These elevations are typically transient and resolve once the underlying stressor is addressed.
Impaired renal function can reduce the excretion of metabolites like C5DC, causing their accumulation in the blood. However, this is a less common cause compared to metabolic disorders.
Rare mitochondrial disorders or genetic defects affecting amino acid and fatty acid metabolism may also lead to elevated C5DC levels. These conditions can present with muscle weakness, fatigue, or developmental delays.
| Condition/Cause | Key Biomarkers | Symptoms | Management |
|---|---|---|---|
| Glutaric Aciduria Type 1 | Elevated C5DC, glutaric acid | Developmental delays, dystonia | Low-lysine diet, carnitine supplements |
| Methylmalonic/Propionic Acidemia | Methylmalonic acid, propionylcarnitine | Vomiting, lethargy | Protein restriction |
| Fatty Acid Oxidation Disorders | Long-chain acylcarnitines | Hypoglycemia, muscle weakness | Avoid fasting |
| Metabolic Stress | Transient C5DC rise | Resolves with recovery | Supportive care |
| Kidney Dysfunction | Elevated metabolites | Variable symptoms based on severity | Address underlying renal condition |
Elevated C5DC levels are most commonly associated with Glutaric Aciduria Type 1 but may also indicate other metabolic or physiological conditions. Early diagnosis through newborn screening and confirmatory tests is critical for timely intervention. Management strategies vary depending on the underlying cause but often involve dietary modifications and metabolic support measures to prevent complications such as neurological damage.
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I have been using Healthmatters.io since 2021. I travel all over the world and use different doctors and health facilities. This site has allowed me to consolidate all my various test results over 14 years in one place. And every doctor that I show this to has been impressed. Because with any health professional I talk to, I can pull up historical results in seconds. It is invaluable. Even going back to the same doctor, they usually do not have the historical results from their facility in a graph format. That has been very helpful.
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Advanced Plan Member since 2020
What fantastic service and great, easy-to-follow layouts! I love your website; it makes it so helpful to see patterns in my health data. It's truly a pleasure to use. I only wish the NHS was as organized and quick as Healthmatters.io. You've set a new standard for health tracking!
Paul
Healthmatters Pro Member since 2024
As a PRO member and medical practitioner, Healthmatters.io has been an invaluable tool for tracking my clients' data. The layout is intuitive, making it easy to monitor trends and spot patterns over time. The ability to customize reports and charts helps me present information clearly to my clients, improving communication and outcomes. It's streamlined my workflow, saving me time and providing insights at a glance. Highly recommended for any practitioner looking for a comprehensive and user-friendly solution to track patient labs!
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2-Oxoglutaric, 3-OH-Dodecanoyl (3-OH-C12), 3-OH-Dodecenoyl (C-3-OH-C12:1), 3-OH-Hexadecanoyl (3-OH-C16), 3-OH-Tetradecanoyl (3-OH-C14), 3-OH-Tetradecenoyl (3-OH-C14:1), Acetylcarnitine, C2, Adipoyl/Meglutaryl (C6-DC), Adipoylcarnitine, C6DC (C6-DC), C14-Hydroxy, C18-Hydroxy, Decadienoylcarnitine, C10:2, Decanoylcarnitine, C10, Decenoylcarnitine (C10:1), Dodecadienoyl (C12:2), DODECANOYLCARNITINE, C12, Dodecenoyl (C12:1), DODECENOYLCARNITINE, C12:1, Free Carnitine (C0), Glutarylcarnitine, C5DC (C5-Dicarboxylic), Hexadecadienoyl (C16:2), Hexadecanoylcarnitine (C16-DC), Hexadecanoylcarnitine, C16, Hexadecenoylcarn, C16:1, Hexanoylcarnitine, C6, ISO-/BUTYRYLCARNITINE, C4, ISOVALERYL-2/-METHYLBUT C5, Linoleoylcarnitine, C18:2, Malonylcarnitine, C3-DC, METHYLMALONYLCARN, C4DC (C4-Dicarboxylic), Octadecanoyl (C18:0), Octanoylcarnitine, C8, Octenoyl (C8:1), OCTENOYLCARNITINE, C8:1, OH Butyrylcarnitine, C4OH (C4-Hydroxy), OH DODECANOYLCARN, C12-OH, OH Hexadecanoyl C16:1 OH, OH Hexadecanoylcarn C16OH, oh Isovalerylcarnitine, C5oh (C5-Hydroxy), OH-Butyrylcarnitine, C4OH, OH-HEXANOYLCARNITINE, C6OH, OH-LINOLEOYLCARN, C18:2-OH (C18:2-Hydroxy), OH-OLEOYLCARN, C18:1-OH (C18:1-Hydroxy), OH-TETRADECANOYLCARN, C14OH, OH-TETRADECENOYL; C14:1-OH, Oleoylcarnitine, C18:1, Oleylcarnitine (C18:1-DC), Palmitoyl (C16), Propionylcarnitine, C3, Stearoylcarnitine, C18, Suberyl (C8-DC), Suberylcarnitine, C8DC, Tetradecadienoylcarn, C14:2, TETRADECANOYLCARNITINE, C14, TETRADECENOYLCARN, C14:1, TIGLYL/METHYLCROTONYL, C5:1
