E71.120
Methylmalonic acidemia
Clinical Classification Guidelines
Medical Intelligence & Overview
Methylmalonic acidemia is a rare genetic disorder that affects how the body processes certain proteins and fat molecules. It is classified under ICD-10 code E71.120 and involves an enzyme deficiency that leads to the buildup of methylmalonic acid in the body. This accumulation can interfere with normal bodily functions and cause a range of health issues. Early diagnosis and management are essential to help reduce potential complications and improve quality of life for those affected.
Causes & Symptoms
Clinical Causes: Inherited genetic mutations affecting the methylmalonyl-CoA mutase enzyme Autosomal recessive inheritance pattern, meaning both parents carry a copy of the mutated gene Mutations in the MMUT gene or related genes involved in cobalamin (vitamin B12) metabolism
Key Symptoms: Vomiting and poor feeding in infants Lethargy and irritability Developmental delays or loss of milestones Episodes of metabolic crisis characterized by dehydration, breathing difficulties, or coma Hypotonia (reduced muscle tone) Failure to thrive or weight loss Seizures in severe cases Elevated levels of methylmalonic acid detectable through blood or urine tests
Diagnostic & Treatment
Diagnosis Path: Diagnosis of methylmalonic acidemia involves a combination of clinical evaluation and laboratory testing. Newborn screening programs may detect elevated methylmalonic acid levels early on. Confirmatory tests include:
Treatment Protocols: Managing methylmalonic acidemia aims to control symptoms, prevent metabolic crises, and improve quality of life. Treatment strategies include:
Clinical Advice & FAQs
Billing Guidance
Is E71.120 a billable ICD-10 code?
Yes, E71.120 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.120?
Clinical documentation must specify the nature of Methylmalonic acidemia and any associated comorbidities for accurate reporting.
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