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

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

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

Images

Urea cycle

Male urinary system

Previous Section

Hereditary urea cycle abnormality Overview

Next Section

Hereditary urea cycle abnormality Treatment

Review Date: 01/21/2010
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)