E71.11
Branched-chain organic acidurias
Clinical Classification Guidelines
Medical Intelligence & Overview
Branched-chain organic acidurias are a group of rare inherited metabolic disorders characterized by the body's inability to break down certain amino acids. These disorders are caused by enzyme deficiencies that affect the metabolism of branched-chain amino acids, namely leucine, isoleucine, and valine. The improper processing leads to the accumulation of organic acids in the blood and urine, potentially causing serious health issues if left untreated. Recognizing and managing these conditions early can significantly improve outcomes for affected individuals.
Causes & Symptoms
Clinical Causes: Genetic mutations inherited in an autosomal recessive pattern Deficiency of specific enzymes involved in amino acid breakdown, such as branched-chain α-keto acid dehydrogenase complex Mutations impacting genes responsible for amino acid metabolism pathways
Key Symptoms: Poor feeding and vomiting in infants Lethargy and hypotonia (reduced muscle tone) Developmental delays and intellectual disabilities Seizures Frequent respiratory infections Failure to thrive and poor weight gain Acidosis leading to rapid breathing and dehydration Sweet or musty odor in urine
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves biochemical testing, including analysis of blood and urine samples for elevated levels of organic acids associated with branched-chain amino acid metabolism. In addition, newborn screening programs may detect these disorders early. Confirmatory testing may include enzyme activity assays and genetic testing to identify specific mutations. Imaging studies, such as MRI, might be used to assess neurological impact if symptoms are present.
Treatment Protocols: Adhering to a specialized low-protein diet tailored to reduce intake of branched-chain amino acids Supplementation with specific vitamins or cofactors that support enzyme function Use of loading doses of carnitine to help excrete organic acids Monitoring of blood and urine organic acid levels regularly Prompt treatment of infections and metabolic decompensation episodes Genetic counseling for affected families
Clinical Advice & FAQs
Billing Guidance
Is E71.11 a billable ICD-10 code?
Yes, E71.11 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.11?
Clinical documentation must specify the nature of Branched-chain organic acidurias and any associated comorbidities for accurate reporting.
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