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Urea Cycle Disorders

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What are the Symptoms and Signs of Urea Cycle Disorders?

Adults with undiagnosed urea cycle disorder may sometimes display symptoms similar to those for alcohol or drug intoxication. In new born infants, the symptoms may progress from somnolence and lethargy to coma.

Normal looking adults sometimes present with symptoms that may be mistaken for alcohol or drug intoxication such as staggering, combativeness and confusion. Some whose condition remains undiagnosed may also show psychiatric symptoms such as bipolar disorder or schizophrenia.
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It has also been revealed that some children with behavioral disorders may actually have urea cycle disorders which have been undiagnosed.

Infants with UCD may look normal initially, as the symptoms fail to appear at birth and may surface only after the child is discharged from the hospital, when the symptoms may progress from somnolence and lethargy to coma.

Some of the symptoms of UCD include -

Cerebral edema
Signs of lethargy
Anorexia
Hyperventilation or hypoventilation
Hypothermia (fall in body temperature)
Seizures
Abnormal posturing
Coma.
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