Ornithine transcarbamylase deficiency

Introduction: Ornithine transcarbamylase deficiency

Description of Ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency (medical condition): A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.

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Ornithine Transcarbamylase Deficiency:
  »Introduction: Ornithine Transcarbamylase Deficiency
  »Symptoms of Ornithine Transcarbamylase Deficiency
  »Treatments for Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency: Inborn error of metabolism of the urea cycle due to ornithine carbomoyltransferase (E.C. 2.1.3.3) deficiency associated with hyperammonemia and accumulation of ammonia in the brain and liver. In most cases the early symptoms appear within the first three days of life and include respiratory distress, feeding difficulty, hypotonia, lethargy, and death in untreated cases. Neonatal hyperammonemic coma lasting longer than 48 hours usually results in cortical atrophy and mental retardation. In late-onset OTC deficiency the symptoms appear from 2 months to 44 years with normal appearance at birth, followed by irritability, vomiting, lethargy, seizures, delayed development, ataxia, and seizures. Accumulation of ammonium in the brain and blood usually follows a protein load or intermittent infection. OTC deficient patients are particularly sensitive to toxic effects of valproate.
Source: Diseases Database

Ornithine transcarbamylase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Ornithine transcarbamylase deficiency:

• Ornithine transcarbamylase
• Ornithine
• Transcarbamylase
• Deficiency
• Deficiency disease

Ornithine transcarbamylase deficiency as a Disease

Ornithine transcarbamylase deficiency (medical condition): See Ornithine Transcarbamylase Deficiency (disease information).
  »Introduction: Ornithine Transcarbamylase Deficiency
  »Symptoms of Ornithine Transcarbamylase Deficiency
  »Treatments for Ornithine Transcarbamylase Deficiency

More information on medical condition: Ornithine Transcarbamylase Deficiency:

• Information about Ornithine Transcarbamylase Deficiency
• Basic Summary for Ornithine Transcarbamylase Deficiency
• Symptoms of Ornithine Transcarbamylase Deficiency
• Complications of Ornithine Transcarbamylase Deficiency
• Treatments for Ornithine Transcarbamylase Deficiency

Terms associated with Ornithine transcarbamylase deficiency:

Terms Similar to Ornithine transcarbamylase deficiency:

• Ornithine carbamyltransferase deficiency

Source: Diseases Database

The following terms can be used for Ornithine transcarbamylase deficiency

• ornithine carbamoyl phosphate deficiency

Source: CRISP

External links related to: Ornithine transcarbamylase deficiency

• eMedicine - Ornithine Transcarbamylase Deficiency : Article by Karl S Roth, MD
• OMIM - ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
• Search Jablonski's Syndromes Database
• GeneReviews: Urea Cycle Disorders Overview
• Russell's syndrome III (Alexander Russell) (www.whonamedit.com)

Source: Diseases Database

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