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Phenylketonuria Learning Center
Symptoms could include:
- Mental Retardation
- Seizures
- Rash
- Tremor
- Microcephaly
- Developmental Delay
- Muscle Spasticity
- Hyperactivity
- Abnormal Urine Odor
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Altered Growth And Development of Social Skills
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Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
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PKU symptoms are caused by alterations or mutations in the genetic code for the PAH enzyme. Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine. The PAH gene and its PKU m...
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Untreated PKU patients develop a broad range of symptoms related to severely impaired cognitive function, sometimes referred to as mental retardation. Other symptoms can include extreme patterns of behavior, delayed speech development, seizures, a...
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Untreated PKU patients develop a broad range of symptoms related to severely impaired cognitive function, sometimes referred to as mental retardation. Other symptoms can include extreme patterns of behavior, delayed speech development, seizures, a...
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The underlying cause of PKU is mutation in the gene that tells the body to make the enzyme phenylalanine hydroxylase. This enzyme allows the body to break down phenylalanine and ultimately use it to build proteins. Normally, the first step in phen...
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Mental retardation is a condition diagnosed before age 18 that includes below-average general intellectual function, and a lack of the skills necessary for daily living.
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Mental retardation (MR) is a developmental disability that first appears in children under the age of 18. It is defined as a level of intellectual functioning (as measured by standard intelligence tests) that is well below average and results in s...
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Mental retardation (MR) is a developmental disability that first appears in children under the age of 18. It is defined as a level of intellectual functioning (as measured by standard intelligence tests ) that is well below average and results in ...
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Mental retardation is a developmental disability that first appears in children under the age of 18. It is defined as an intellectual functioning level (as measured by standard tests for intelligence quotient) that is well below average and signif...
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Mental retardation is a developmental disability that first appears in children under the age of 18. It is defined as an intellectual functioning level (as measured by standard tests for intelligence quotient) that is well below average and signif...
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Below-average intellectual abilities that are present before the age of 18 and interfere with developmental processes and with the ability to function normally in daily life (adaptive behavior). The term mental retardation is commonly used to refe...
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(Also called sociocultural or cultural-familial retardation) Mild mental retardation attributed to environmental causes and generally involving some degree of psychosocial disadvantage. The majority of persons suffering from mental retardation fal...
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A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. See also: Generalized tonic clonic seizure; Partial (focal) seizure; Petit mal (absence) seizure; Epilepsy; Fever (...
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A seizure is a sudden change in behavior characterized by changes in sensory perception (sense of feeling) or motor activity (movement) due to an abnormal firing of nerve cells in the brain. Epilepsy is a condition characterized by recurrent seizu...
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A seizure is a sudden change in behavior characterized by changes in sensory perception (sense of feeling) or motor activity (movement) due to an abnormal firing of nerve cells in the brain . Epilepsy is a condition characterized by recurrent seiz...
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A temporary series of uncontrollable muscle spasms brought on by unusual electrical activity in the brain. Also known as convulsion, clonic seizure, or tonic-clonic seizure. A seizure is characterized by a sudden episode of un- controllable brain ...
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Rashes involve changes in the color or texture of your skin.
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The popular term for a group of spots or red, inflamed skin that is usually a symptom of an underlying condition or disorder. Often temporary, a rash is only rarely a sign of a serious problem.
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Rash is a popular term for a group of spots or an area of red, inflamed skin. A rash is usually a symptom of an underlying condition or disorder. Often only temporary, a rash is rarely a sign of a serious problem.
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The popular term for a group of spots or red, inflamed skin that is usually a symptom of an underlying condition or disorder. Often temporary, a rash is only rarely a sign of a serious problem.
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Tremor is an unintentional (involuntary) rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of th...
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Tremor is an unintentional (involuntary), rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of t...
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Tremor is an unintentional (involuntary), rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of t...
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Microcephaly is a condition in which a person's head is significantly smaller than normal for their age and sex, based on standardized charts. Head size is measured as the distance around the top of the head.
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A birth defect characterized by an abnormally small head, a receding forehead, and large ears and nose. The condition often signals an abnormally small brain and the presence of other disorders such as cerebral palsy. Microcephaly can be caused by...
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Microcephaly is a neurological disorder where the distance around the largest portion of the head (the circumference) is less than should normally be the case in an infant or a child. The condition can be evident at birth, or can develop within th...
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A developmental delay is any significant lag in a child's physical, cognitive, behavioral, emotional, or social development, in comparison with norms.
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Any delay in a child's physical, cognitive, behavioral, emotional, or social development, due to any number of reasons. Developmental delay refers to any significant retardation in a child's physical, cognitive, behavioral, emotional, or social de...
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Spasticity is stiff or rigid muscles with exaggerated, deep tendon reflexes (for example, a knee-jerk reflex. The condition can interfere with walking, movement, or speech. See also: Muscle cramps
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Spasticity is a form of muscle overactivity. A spastic muscle is one in which a muscle resists being stretched out, and the resistance to stretch is greater the faster the muscle is moved. Spasticity is often used as an umbrella term for other for...
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Spasticity is an abnormal increase in muscle tone. It may be associated with involuntary muscle spasms , sustained muscle contractions (dystonia), and exaggerated deep tendon reflexes that make movement difficult or uncontrollable. Although it mos...
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Hyperactivity is a state of too much muscle activity. This term is also used to describe a situation when a particular portion of the body is too active, such as when a gland produces too much of its particular hormone. See also: Attention deficit...
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Urine odor refers to the scent of the fluid excreted during urination. Urine odor varies. However, if you drink enough fluids and are otherwise healthy, urine does not usually have a strong smell.
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