Hereditary urea cycle abnormality
Alternative Names
Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormalitySymptoms
Typically, the baby begins nursing well and seems normal. However, over time the baby develops poor feeding, vomiting, and sleepiness which may be so deep that the baby is difficult to awaken. This usually occurs within the first week after birth.
Symptoms include:
- Coma
- Confusion
- Decreased food intake
- Disliking protein-containing foods
- Increased sleepiness, difficulty waking up
- Nausea, vomiting
Exams and Tests
The doctor will often diagnose these disorders when the child is still an infant.
Signs may include:
- Abnormal amino acids in blood and urine
- Abnormal level of orotic acid in blood or urine
- High blood ammonia level
- Normal level of acid in blood
Tests may include:
- Genetic tests
- Liver biopsy
- MRI or CT scan
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