E71.110
Isovaleric acidemia
Clinical Classification Guidelines
Medical Intelligence & Overview
Isovaleric acidemia is a rare inherited metabolic disorder, classified under ICD-10 code E71.110. It affects the body's ability to process specific amino acids, leading to a buildup of toxic substances in the blood. This condition is present from birth and requires careful management to prevent serious health complications. Recognizing the symptoms and understanding the causes can aid in early diagnosis and treatment.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting the activity of the enzyme isovaleryl-CoA dehydrogenase. Inheritance pattern: Autosomal recessive, meaning a person must inherit the faulty gene from both parents. Absence of functional enzyme leads to the inability to properly break down the amino acid leucine. Potential environmental factors generally do not cause the disorder but can exacerbate symptoms.
Key Symptoms: Vomiting and poor feeding, especially in infants. Lethargy or decreased activity levels. Developmental delays or regression in milestones. Sweet or musty odor of the body, urine, or breath. Muscle weakness and poor muscle tone (hypotonia). Signs of metabolic crisis such as dehydration, difficulty breathing, or seizures during episodes. Failure to thrive and weight loss.
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of newborn screening tests, dietary assessments, and biochemical analysis. Specific tests include:
Treatment Protocols: Managing isovaleric acidemia involves multiple approaches aimed at preventing episodes and maintaining metabolic balance, such as:
Clinical Advice & FAQs
Billing Guidance
Is E71.110 a billable ICD-10 code?
Yes, E71.110 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.110?
Clinical documentation must specify the nature of Isovaleric acidemia and any associated comorbidities for accurate reporting.
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