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. The baby usually becomes symptomatic after feeding has started because human milk provides a protein load. A common early sign in newborns is central hyperventilation (fast breathing). Other symptoms can include vomiting, poor feeding, seizures, irritability and coma.
Some patients with partial UCD defects present later with chronic vomiting, developmental delay, seizure disorder or psychiatric illness. 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
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
