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Which are the symptoms of Phenylketonuria?
Symptoms of Phenylketonuria reported by real patients, from the most common to the most limiting, plus a medically reviewed summary with sources.
Toxic levels of phenylalanine (and insufficient levels of tyrosine) can interfere with infant development in ways which have permanent effects. The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylketone). In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and uncover any phenylketonuria that was initially missed.
Posted Feb 24, 2017 by Levi Christopher Lucero, Jr. 2185
Anxiety and lack of energy
Posted Sep 15, 2017 by Chloe 100
The worst symptoms of Phenylketonuria can be when the disease is left untreated. If that happens, then it can lead to irreversible brain damage and intellectual disabilities.
Posted Sep 18, 2017 by Georgina 1300
Lethargy, migraines, irritability, tremors.
Posted Sep 22, 2017 by Nickelle 2000
