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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
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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

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