E70.0
Classical phenylketonuria
Clinical Classification Guidelines
Medical Intelligence & Overview
Classical phenylketonuria (PKU) is a rare inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is crucial for converting the amino acid phenylalanine into tyrosine. When this process is impaired, phenylalanine accumulates in the blood and can lead to several health problems if not diagnosed and managed early. PKU is classified under ICD-10 code E70.0 and is considered a genetic condition present at birth.
Causes & Symptoms
Clinical Causes: Genetic mutation in the PAH gene, inherited in an autosomal recessive pattern Both parents typically carry a mutated gene, passing it to the child No environmental factors are responsible for the condition
Key Symptoms: Developmental delays and intellectual disability if left untreated Seizures Behavioral problems and hyperactivity Fair skin, blonde hair, and blue eyes may be more common Fair skin and light-colored hair due to reduced melanin synthesis Musty odor of the urine caused by excess phenylalanine Eczema or skin rashes Poor bone strength or osteoporosis in some cases
Diagnostic & Treatment
Diagnosis Path: Blood amino acid analysis to measure phenylalanine concentration Genetic testing to identify mutations in the PAH gene Urine tests to detect abnormal metabolites
Treatment Protocols: A low-phenylalanine diet reduced intake of high-protein foods such as meat, dairy, nuts, and certain grains Specialized medical formulas designed to provide necessary nutrients without excess phenylalanine Use of medications like sapropterin dihydrochloride to enhance enzyme activity in some patients Regular monitoring of blood phenylalanine levels to adjust diet and treatment accordingly In some cases, enzyme replacement therapy or gene therapy may be considered as future options
Clinical Advice & FAQs
Billing Guidance
Is E70.0 a billable ICD-10 code?
Yes, E70.0 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E70.0?
Clinical documentation must specify the nature of Classical phenylketonuria and any associated comorbidities for accurate reporting.
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