Other branched-chain organic acidurias
ICD-10 E71.118 is a billable code used to indicate a diagnosis of other branched-chain organic acidurias.
Other branched-chain organic acidurias refer to a group of rare metabolic disorders characterized by the accumulation of branched-chain amino acids (BCAAs) and their corresponding organic acids in the body due to enzyme deficiencies. These conditions arise from genetic mutations affecting the enzymes responsible for the catabolism of BCAAs, which include leucine, isoleucine, and valine. The most common disorders in this category include maple syrup urine disease (MSUD), but E71.118 encompasses other less common variants that do not fit into the standard classifications. Symptoms can vary widely but often include metabolic crises, neurological impairment, and developmental delays. Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, alongside genetic testing to identify specific enzyme deficiencies. Management strategies focus on dietary restrictions to limit BCAA intake, supplementation of essential amino acids, and close monitoring of metabolic status to prevent acute complications. Early diagnosis and intervention are crucial to improving outcomes and preventing long-term neurological damage.
Detailed family history, genetic testing results, and metabolic profiles.
Patients presenting with developmental delays, metabolic crises, or unexplained neurological symptoms.
Ensure that genetic testing results are clearly documented to support the diagnosis.
Growth charts, developmental assessments, and dietary management plans.
Infants with poor feeding, lethargy, or abnormal urine odor.
Documenting the clinical course and any metabolic crises is essential for accurate coding.
Used when confirming a diagnosis of E71.118 through genetic analysis.
Documentation of clinical symptoms and rationale for genetic testing.
Genetic specialists should ensure comprehensive family history is included.
Branched-chain organic acidurias are a group of metabolic disorders caused by deficiencies in enzymes that break down branched-chain amino acids, leading to their accumulation and associated health issues.
