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Phenylketonuria : Symptoms

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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.
Source:ADAM
Date:May 27, 2009
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.
Source:Gale Encyclopedia of Children's Health
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, ...
Source:Gale Encyclopedia of Genetic Disorders Part I
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, ...
Source:Gale Encyclopedia of Genetic Disorders Part II
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.
Source:Gale Encyclopedia of Medicine
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.Mental retardation affects about 1- 3% of the population. There are many cause...
Source:ADAM
Date:November 12, 2007
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 sig...
Source:Gale Encyclopedia of Neurological Disorders
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 sig...
Source:Gale Encyclopedia of Mental Disorders
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 signifi...
Source:Gale Encyclopedia of Medicine
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 signifi...
Source:Gale Encyclopedia of Children's Health
According to the definition in the American Psychiatric Association''s Diagnostic and Statistical Manual(DSM-IV), a mentally retarded person is significantly limited in at least two of the following areas: self-care, communication, home living, soc...
Source:Gale Encyclopedia of Childhood and Adolescence
(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 fall...
Source:Gale Encyclopedia of Childhood and Adolescence
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain.Secondary seizures; Reactive seizures; Seizure- secondary; Seizure- reactive.There are a wide variety of possible sy...
Source:ADAM
Date:March 29, 2009
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 seizure...
Source:Gale Encyclopedia of Neurological Disorders
Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
Source:StayWell
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 seizure...
Source:Gale Encyclopedia of Mental Disorders
Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
Source:StayWell
Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
Source:StayWell
The intense, involuntary muscular contractions that often accompany seizures are referred to as convulsions. Seizures normally last three to five minutes, with a period of unconsciousness that may last for up to 30 minutes.Seizures can result from...
Source:Gale Encyclopedia of Childhood and Adolescence
Detailed information on epilepsy and seizures, including the different types of seizures, causes, symptoms, diagnosis, and treatment
Source:StayWell
Children with epilepsy may have seizures only once in a while, or every day. Though seizures can be scary for parents and caregivers, they aren't painful and are usually brief.
Source:StayWell
A seizure results from a sudden rush of abnormal electrical signals in the brain. Symptoms may range from a minor daze to uncontrollable muscle spasms (convulsion). In some cases, the victim may even lose consciousness. A seizure can be caused by a high fever, head injury, drug reaction, or condition such as epilepsy.
Source:StayWell
Although not a psychiatric disorder, epilepsy has a psychiatric aspect. The link is manifested in similar, often overlapping, symptoms, so it is important that caregivers diagnose and treat their patients with care.
Source:StayWell
People with certain mental conditions can experience seizures that appear to be epilepsy but are actually psychogenic seizures. Studies are finding ways to distinguish between the two types to facilitate proper treatment.
Source:StayWell
How does estrogen use and menopause affect someone with a seizure disorder?
Source:StayWell
Skin redness or inflammation; Skin lesion; Rubor; Skin rash; Erythema.A simple rash is called dermatitis, meaning inflammation of the skin. Contact dermatitis is caused by things your skin touches, such as:.Chemicals in elastic, latex, and rubber ...
Source:ADAM
Date:July 18, 2007
Often temporary, a rash is only rarely a sign of a serious problem.A rash may occur on only one area of the skin, or it could cover almost all of the body. Also, a rash may or may not be itchy.
Source:Gale Encyclopedia of Medicine
Infections, with bacteria or viruses, often cause rashes. Some of these infections are more serious than others. Fever is another sign of infection.
Source:StayWell
very common in newborns (babies less than one month old). They can be bumps, blisters, or scaly patches; they can appear on the scalp, face, body and diaper area. Most rashes are not cause for concern, but some rashes need a doctor's attention.
Source:StayWell
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.
Source:Gale Encyclopedia of Alternative Medicine
Often temporary, a rash is only rarely a sign of a serious problem.A rash may occur on only one area of the skin, or it may cover almost all of the body. Also, a rash may or may not be itchy.
Source:Gale Encyclopedia of Children's Health
What are the symptoms of Paget's disease of the breast? Mary Pickett, M.D., is a lecturer for Harvard Medical School and an assistant professor of medicine at Oregon Health & Science University in Portland, OR. At OHSU, she practices general internal medicine and teaches medical residents and students.
Source:StayWell
How should you treat poison oak or ivy rashes? Mary Pickett, M.D., is a lecturer for Harvard Medical School and an assistant professor of medicine at Oregon Health & Science University in Portland, OR. At OHSU, she practices general internal medicine and teaches medical residents and students.
Source:StayWell
Can someone have shingles without a major rash ? just extreme skin sensitivity and itching?
Source:StayWell
Tremors are a type of involuntary shaking movement. Involuntary means you shake without trying to do so.Tremors are caused by problems with the nerves supplying certain muscles.
Source:ADAM
Date:June 19, 2008
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 the...
Source:Gale Encyclopedia of Neurological Disorders
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...
Source:Gale Encyclopedia of Alternative Medicine
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...
Source:Gale Encyclopedia of Medicine
Microcephaly describes a head size significantly below normal for a person''s age and sex, based on standardized charts. Head size is measured as the distance around the top of the head.Microcephaly most often occurs because of failure of the brain...
Source:ADAM
Date:November 9, 2007
Detailed information on microcephaly, including causes, symptoms, and diagnosis
Source:StayWell
The condition often signals an abnormally small brain and the presence of other disorders such as cerebral palsy.Microcephaly can be caused by genetic and chromosomal abnormalities, or by environmental factors such as prenatal radiation exposure, ...
Source:Gale Encyclopedia of Childhood and Adolescence
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 the...
Source:Gale Encyclopedia of Neurological Disorders
A developmental delay is any significant lag in a child''s physical, cognitive, behavioral, emotional, or social development, in comparison with norms.Developmental delay refers to when a child''s development lags behind established normal ranges fo...
Source:Gale Encyclopedia of Children's Health
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 dev...
Source:Gale Encyclopedia of Childhood and Adolescence
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.
Source:ADAM
Date:March 26, 2009
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.
Source:Gale Encyclopedia of Neurological Disorders
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.
Source:Gale Encyclopedia of Children's Health
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 ...
Source:ADAM
Date:May 8, 2008
Urine odor refers to the scent of the fluid excreted during urination. Urine odor varies.
Source:ADAM
Date:August 13, 2007
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