Synonym(s): - Classic PKU - Classic phenylketonuria - Classical PKU
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: No OMIM references No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PAH	P00439	612349

- Abnormal odour of the urine
- Aminoacid metabolism anomalies / aminoaciduria
- Decreased hair pigmentation / hypopigmentation of hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychic / behavioural troubles

- Autism / autistic disoders
- Eczema
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Microcephaly
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tremor
- Troubles of memory / amnesia / hypermnesia

- Auto-aggressivity / auto-mutilation
- Cataract / lens opacification
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intracranial / cerebral calcifications
- Motor deficit / trouble
- Tight skin / lack of elasticity