E71.121
Propionic acidemia
Clinical Classification Guidelines
Medical Intelligence & Overview
Propionic acidemia is a rare inherited metabolic disorder characterized by the body's inability to process certain proteins and fats properly. This condition results from a deficiency of the enzyme propionyl-CoA carboxylase, leading to the accumulation of propionic acid in the blood, which can cause serious health issues if left untreated. This guide aims to provide a clear understanding of propionic acidemia, including its causes, symptoms, diagnosis, and treatment options.
Causes & Symptoms
Clinical Causes: Propionic acidemia is primarily caused by genetic mutations affecting the PCCA or PCCB genes, which are responsible for the production of the propionyl-CoA carboxylase enzyme. It is inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Family history of the condition increases the likelihood of inheritance.
Key Symptoms: Vigorous vomiting and inability to feed, especially in newborns Lethargy and poor feeding Developmental delays and intellectual disability if untreated Seizures Hypotonia (reduced muscle tone) Dehydration Failure to grow or gain weight as expected Breath that smells like rottenสบหย่ (acetone smell) Possible episodes of metabolic crisis during illness or stress
Diagnostic & Treatment
Diagnosis Path: - Urine tests for organic acids to confirm diagnosis
Treatment Protocols: - Emergency protocols during illness or metabolic crisis to prevent hospitalization
Clinical Advice & FAQs
Billing Guidance
Is E71.121 a billable ICD-10 code?
Yes, E71.121 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.121?
Clinical documentation must specify the nature of Propionic acidemia and any associated comorbidities for accurate reporting.
Cite this Clinical Reference