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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ornithine transcarbamylase deficiency


Other Names for this Disease

  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of ornithine transcarbamylase (OTC) deficiency?

Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from OTC deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.[1] In some affected individuals, signs and symptoms of OTC deficiency may be less severe, and may not appear until later in life.[1]
Last updated: 6/3/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine transcarbamylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aminoaciduria 90%
Hepatic failure 90%
Hyperammonemia 90%
Hypoglycemia 90%
Pyloric stenosis 90%
Splenomegaly 90%
Stroke 5%
Cerebral edema -
Coma -
Episodic ammonia intoxication -
Episodic ataxia -
Failure to thrive -
Hyperammonemia -
Hyperglutaminemia -
Intellectual disability -
Irritability -
Lethargy -
Low plasma citrulline -
Protein avoidance -
Respiratory alkalosis -
Seizures -
Vomiting -
X-linked recessive inheritance -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Ornithine transcarbamylase deficiency. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed 3/4/2011.


Other Names for this Disease
  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.