Elevated phenylalanine in plasma & tissues and its excretion in urine.
Accumulation of Phenyl acetate, Phenyl lactate & Phenyl pyruvate.
Musty odor or mousey odor of skin, hair, sweat, urine (due to phenylacetate).
Phenyl acetate is excreted in urine as Phenylacetylglutamine, which is responsible for "mousey odor" of the urine samples.
Because of the excretion of phenyl pyruvate in urine the disease is also named as Phenylketonuria .
-Intellectual disability, developmental delay, microcephaly seizures & low I.Q.
-High level of phenylalanine inhibits tyrosinase, the enzyme required to initiate the synthesis of pigment, melanin.