Phenylpyruvate

ChemistryAlso known as: Phenylpyruvic acidN/A

Detects the presence of phenylpyruvate in serum or plasma, indicating phenylalanine metabolism disorder.

Normal Range

Consult your provider

N/A

Abnormal Levels

Consult your provider

Specimen Type

Blood

Why This Biomarker Matters

Phenylpyruvate indicates phenylketonuria (PKU), a serious metabolic disorder. Early detection and lifelong phenylalanine-restricted diet prevent intellectual disability and neurological complications.

Overview

Phenylpyruvate is an organic acid that appears in urine when phenylalanine metabolism is severely impaired. Its presence is a hallmark of phenylketonuria (PKU), an inherited condition where the enzyme that breaks down phenylalanine is deficient. Elevated phenylpyruvate indicates high blood phenylalanine levels that can cause intellectual disability, light skin pigmentation, and neurological problems if not managed through dietary restriction. While PKU is typically identified through newborn screening, this test confirms diagnosis and guides treatment monitoring.