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Hereditary urea cycle abnormality - Symptom

Alternative Names

Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality

Symptoms:

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:

  • Confusion
  • Decreased food intake
  • Disliking protein-containing foods
  • Increased sleepiness, difficulty waking up
  • Nausea, vomiting

Signs 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:

  • Reviewed last on: 1/21/2010
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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