E71.111
3-methylglutaconic aciduria
Clinical Classification Guidelines
Medical Intelligence & Overview
3-Methylglutaconic aciduria is a rare metabolic disorder characterized by the abnormal buildup of 3-methylglutaconic acid in the body. It falls under the group of inborn errors of metabolism and can affect multiple organ systems, particularly those of the nervous system and the heart. The condition is identified through abnormal levels of specific acids in the urine and may present with a variety of symptoms depending on its severity and the systems involved.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting the enzymes responsible for metabolizing 3-methylglutaconic acid Inheritance typically follows an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations Potential environmental factors or additional genetic interactions may influence the severity but are not well understood
Key Symptoms: Developmental delays and intellectual disability Muscle weakness and hypotonia (low muscle tone) Cardiomyopathy, which can lead to heart failure Seizures or abnormal brain activity Failure to thrive or poor weight gain in infants Ophthalmologic issues such as optic atrophy Muscular and neurological abnormalities
Diagnostic & Treatment
Diagnosis Path: Diagnosis of 3-methylglutaconic aciduria involves a combination of biochemical tests and genetic analysis. Urinalysis reveals elevated levels of 3-methylglutaconic acid and other organic acids. Plasma amino acid testing may provide additional insights. Genetic testing can identify specific mutations in genes linked to the disorder. Brain imaging and cardiac evaluations may be performed to assess organ involvement, especially if neurological or cardiac symptoms are present.
Treatment Protocols: Currently, there is no definitive cure for 3-methylglutaconic aciduria. Management focuses on symptomatic treatment and supportive care, including:
Clinical Advice & FAQs
Billing Guidance
Is E71.111 a billable ICD-10 code?
Yes, E71.111 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.111?
Clinical documentation must specify the nature of 3-methylglutaconic aciduria and any associated comorbidities for accurate reporting.
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