Everyone Healthy Library
Phenylketonuria (PKU)
Condition / disease reference page from the Everyone Healthy database.
! Seek urgent medical care if warning signs appear
Some health conditions or symptoms can become urgent. Use this page for education, but seek help quickly if warning signs are present.
Get urgent medical care now if there is any severe, sudden, rapidly worsening or worrying symptom, especially:
- chest pain, pressure or pain spreading to the arm, jaw or back
- trouble breathing, blue lips, severe wheeze or choking
- stroke-like symptoms such as face drooping, arm weakness or speech trouble
- collapse, fainting, seizure, confusion or extreme drowsiness
- severe bleeding, black stools, vomiting blood or major injury
- severe allergic reaction, swelling of the face/throat or widespread rash with breathing trouble
- severe abdominal pain, severe headache, stiff neck or sudden vision change
- signs of severe dehydration, sepsis, high fever with worsening illness, or symptoms in a baby/young child that concern you
Connected health information
Explore this condition in a clear order
Condition overview
Attributes
Linked signs and symptoms
13Each sign/symptom opens its own page and links back to related conditions.
- Behaviour: Hyperactivity
- Breath Odour (Halitosis)
- Growth Impairment or Stunted
- Head: Small Size
- Involuntary Trembling Or Quivering (Tremor)
- Mental Retardation
- Mind: Developmental Delay
- Mind: Impairments in Social Interaction
- Movement Disorder
- Seizures
- Skin Depigmentation
- Skin Red Itchy and Scaly (Eczema)
- Vomiting
Linked drugs / medications
0No linked drugs are listed yet.
Treatments, therapies and supportive options
0Grouped by treatment type. These are educational database links, not personal treatment recommendations. Evidence labels are shown only where stored in the EH database.
No linked treatment or supportive options are listed yet.
Linked diagnostic tests and investigations
4These are pulled from both EH diagnostic-test link tables, including the older large test-link table.
Biological markers/agents
4This visual map shows biological markers/agents reported as increased or decreased with this condition. These are educational relationships only; test results must be interpreted by a qualified clinician because ranges vary by lab, method, age, sex and clinical context.
Often decreased
3- Sodium (Na, Blood)Reference range exampleInfant (0 - 1y): 134–150 mEq/L; Child (0 - 16y): 136–145 mEq/LLinked diagnostic testsSodium Concentration (Na, Blood)
- UrineReference range exampleAdult ( > 16y): 4.5–7.5; Child (0 - 16y): 500–1,400 mLLinked diagnostic testsUrine Colour, Urine Creatinine Concentration
- Urine 5-Hydroxindoleacetic AcidReference range exampleAdult ( > 16y): 2–8 mg/24hrsLinked diagnostic testsUrine 5-Hydroxindoleacetic Acid Concentration
Introduction / full article
Phenylketonuria (PKU)
The main information article for this record is not yet available in the database.