Etymed
phenylketonuria
Definition
A genetic disorder characterized by the inability to metabolize phenylalanine, leading to its accumulation and excretion in urine
Clinical context
A 3-month-old infant presents with developmental delay, intellectual disability, and a distinctive musty odor. Urinalysis reveals a positive test for phenylpyruvate, and genetic testing confirms a deficiency in phenylalanine hydroxylase. Early detection through newborn screening prevented severe neurological complications in this patient.
Mnemonic
Phe-NO-uria - Phenylalanine Not Oxidized, Urine Shows the Problem
These morphemes also unlock…
- phenyl — phenyl group (from phainein, to show + hyle, matter)
- keton/o — ketone (from German Keton)
- -uria — urine condition