Elevated Urinary 3 Methylcrotonylglycine Level C5539708
Elevated 3-methylcrotonylglycine in urine suggests a rare organic acid metabolism disorder affecting infants. It may indicate 3-methylcrotonyl-CoA carboxylase deficiency, a genetic condition requiring metabolic diet management.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue
(metabolic)Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Mild metabolic acidosis
(metabolic)Muscle weakness
(neurological)Feeding difficulties
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Biotin supplementation
High-dose biotin supplementation as a cofactor for 3-methylcrotonyl-CoA carboxylase, the deficient enzyme in this metabolic disorder, often dramatically improving metabolic parameters.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Leucine-restricted diet
Dietary leucine restriction as leucine is a precursor to HMG-CoA in the metabolic pathway producing 3-methylcrotonyl-CoA and subsequently 3-methylcrotonylglycine.
Additional treatment options
Avoidance of fasting
Prevention of prolonged fasting and catabolic states that could precipitate metabolic decompensation, particularly important during illness or increased metabolic demand.
lifestyleRegular metabolic screening
Ongoing monitoring of urinary 3-methylcrotonylglycine levels and acylcarnitine profile to assess treatment response and detect subclinical metabolic derangement.
monitoringL-carnitine supplementation
Carnitine replacement to address secondary carnitine deficiency that may occur in organic acidemias, supporting overall metabolic function.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Elevated Urinary 3 Methylcrotonylglycine Level C5539708?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 2014.
Saudubray JM, van den Berghe G, Walter JH. Organic acidemias. In: Inborn Metabolic Diseases. Springer. 2012.
Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency: clinical, biochemical, and enzymatic characterization in 12 patients. Mol Genet Metab. 2018.
Ficicioglu C, Kush不回 A, Bearden D. Clinical utility of urine organic acids for the diagnosis of organic acidemias: a systematic review. Genet Med. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy