Phenylketonuria
Also called: PKU
Untreated PKU can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures.
Developmental: delayed development, failure to thrive, short stature, or slow growth
Cognitive: intellectual disability or slowness in activity
Also common: atopic dermatitis, body odor, loss of skin color, seizures, or urine odor
Consult a doctor for medical advice
Sources: Mayo Clinic and others. Learn more
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May 13, 2022 · A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body; Nervous system (neurological) problems that may include ...
Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. Phenylalanine is found in ...
behavioural difficulties such as frequent temper tantrums and episodes of self-harm; fairer skin, hair and eyes than siblings who do not have the condition ( ...
Jan 16, 2024 · Seizures, shaking, or jerking movements in the arms and legs; Stunted or slow growth; Skin rashes, like eczema; Small head size, called ...
Nov 17, 2023 · Neurological symptoms are present in some untreated patients with PKU, including seizures, abnormal muscle movements, tight muscles, increased ...
Apr 25, 2023 · The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU ...
... symptoms of the illness at about 6 months of age. These include: Jerky movements in the arms and legs; Lighter skin and eyes (Babies who have PKU can't ...
Signs and symptoms · IQ loss · severe intellectual disabilities · skin rashes (eczema) · pale skin and blue eyes. Phenylalanine usually turns into melanin which ...
Symptoms of PKU · Seizures · Nausea and vomiting · Eczema-like rash · Lighter skin, eye, and hair color than their family members · Aggressive or self-injurious ...