E71.118
Other branched-chain organic acidurias
Clinical Classification Guidelines
Medical Intelligence & Overview
Other branched-chain organic acidurias refer to a group of rare inherited metabolic disorders characterized by the body's inability to properly process branched-chain amino acids, such as leucine, isoleucine, and valine. These conditions lead to the accumulation of toxic organic acids in the body, which can cause a range of health issues. The term 'other' indicates these are specific disorders that do not fall under more common classifications but share similar metabolic disturbances. Proper diagnosis and management are essential to prevent serious complications and support affected individuals.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting enzymes responsible for amino acid breakdown Inheritance pattern is typically autosomal recessive, meaning both parents carry the gene mutation Deficiencies in specific enzymes in the branched-chain amino acid degradation pathway, such as isovaleryl-CoA dehydrogenase, can lead to these disorders Rarely, environmental factors or secondary metabolic disturbances may influence the severity of symptoms
Key Symptoms: Poor feeding and lack of appetite, especially in infants Vomiting and lethargy Developmental delays or regression Hypotonia (reduced muscle tone) Seizures in severe cases Failure to thrive or weight loss Signs of metabolic crisis, such as dehydration or rapid breathing during episodes Possible signs of neurological involvement, including irritability or abnormal movements
Diagnostic & Treatment
Diagnosis Path: Blood tests to detect elevated levels of organic acids and amino acids Urine organic acid analysis through chromatography to identify specific abnormalities Enzyme activity assays in blood or tissue samples to pinpoint enzyme deficiencies Genetic testing to identify mutations in relevant genes Newborn screening programs in some regions can detect certain organic acidurias early
Treatment Protocols: Dietary restrictions to limit intake of branched-chain amino acids, often involving specialized medical formulas Supplementation with nutrients that support metabolic pathways Avoidance of fasting to prevent metabolic crises Medications like carnitine to facilitate the excretion of organic acids Monitoring metabolic status regularly through blood and urine tests Emergency protocols during illness or metabolic crises, including intravenous fluids and medications
Clinical Advice & FAQs
Billing Guidance
Is E71.118 a billable ICD-10 code?
Yes, E71.118 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.118?
Clinical documentation must specify the nature of Other branched-chain organic acidurias and any associated comorbidities for accurate reporting.
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