The list of signs and symptoms mentioned in various sources for Phenylketonuria includes the 50 symptoms listed below:
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Ocassionally other symptoms may also present themselves as symptoms of Phenylketonuria. 5 of the more common ones are included in the list below:
The list of other diseases or medical conditions that may be on the differential diagnosis list of alternative diagnoses for Phenylketonuria includes:
See the full list of 1 alternative diagnoses for Phenylketonuria
More information about symptoms of Phenylketonuria and related conditions:
Click on any of the symptoms below to see a full list of other causes including diseases, medical conditions, toxins, drug interactions, or drug side effect causes of that symptom.
Medical Books Excerpts Excerpts of published medical book chapters related to Phenylketonuria are available from published medical books for more detailed information about Phenylketonuria.
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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An infant with undiagnosed and untreated PKU appears normal at birth but by 4 months begins to show signs of arrested brain development, including mental retardation and, later, personality disturbances (schizoid and antisocial personality patterns and uncontrollable temper). Such a child may have a lighter complexion than unaffected siblings and typically has blue eyes. He may also have microcephaly; eczematous skin lesions or dry, rough skin; and a musty (mousy) odor due to skin and urinary excretion of phenylacetic acid. Approximately 80% of these children have abnormal EEG patterns, and about one-third have seizures, usually beginning between ages 6 and 12 months.
Children with PKU show a precipitous decrease in IQ in their first year, are usually hyperactive and irritable, and exhibit purposeless, repetitive motions. They have increased muscle tone and an awkward gait.
Although blood phenylalanine levels are near normal at birth, they begin to rise within a few days. By the time they reach significant levels (approximately 30 mg/dl), cerebral damage has begun. Such irreversible damage probably is complete by age 2 or 3. However, early detection and treatment can minimize cerebral damage, and children under strict dietary control can lead normal lives.
Source: Professional Guide to Diseases (Eighth Edition), 2005
An infant with undiagnosed and untreated PKU appears normal at birth but by 4 months begins to show signs of arrested brain development, including mental retardation and, later, personality disturbances (schizoid and antisocial personality patterns and uncontrollable temper). Such a child may have a lighter complexion than unaffected siblings and commonly has blue eyes. He may also have microcephaly; eczematous skin lesions or dry, rough skin; and a musty (mousy) odor due to skin and urinary excretion of phenylacetic acid. Approximately 80% of these children have abnormal EEG patterns, and about one-third have seizures, usually beginning between ages 6 and 12 months.
Children with PKU show a precipitous decrease in IQ in their first year, are usually hyperactive and irritable, and exhibit purposeless, repetitive motions. They have increased muscle tone and an awkward gait.
Although blood phenylalanine levels are near normal at birth, they begin to rise within a few days. By the time they reach significant levels (approximately 30 mg/dl), cerebral damage has begun. Such irreversible damage is probably complete by age 2 or 3. However, early detection and treatment can minimize cerebral damage, and children under strict dietary control can lead normal lives.
Source: Handbook of Diseases, 2003
Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy. (Source: Genes and Disease by the National Center for Biotechnology)
When considering symptoms of Phenylketonuria, it is also important to consider Phenylketonuria as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Phenylketonuria may cause:
- (Source - Diseases Database)Onset of Phenylketonuria: usually within months of birth
These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
The symptom information on this page attempts to provide a list of some possible signs and symptoms of Phenylketonuria. This signs and symptoms information for Phenylketonuria has been gathered from various sources, may not be fully accurate, and may not be the full list of Phenylketonuria signs or Phenylketonuria symptoms. Furthermore, signs and symptoms of Phenylketonuria may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Phenylketonuria symptoms.
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