Ornithine Transcarbamylase Deficiency

Aka: Ornithine Transcarbamylase Deficiency, Hyperornithinemia

advertisement

II. Epidemiology

  1. Most common urea cycle disorder
  2. Incidence: 1:70,000

III. Pathophysiology

  1. X-Linked disorder

IV. Signs: Boys (severe signs due to single X-Chromosome)

  1. Refractory Emesis
  2. Hyperammonemia
  3. Progressive encephalopathy

V. Signs: Girl (mild signs due to Heterozygous)

  1. Mild hyperammonemia
  2. May present with patient avoiding Protein in general

VI. Management

  1. Acute
    1. Sodium benzoate
    2. Sodium phenylacetate
    3. Arginine
    4. Dialysis
  2. Chronic: Maintenance
    1. Low Protein diet with essential Amino Acid Supplement

VII. Complications

  1. Hepatic failure

VIII. References

  1. Raghuveer (2006) Am Fam Physician 73:1981-90 [PubMed]

Images: Related links to external sites (from Bing)

These images are a random sampling from a Bing search on the term "Ornithine Transcarbamylase Deficiency." Click on the image (or right click) to open the source website in a new browser window. Search Bing for all related images

Related Studies

Related Topics in Metabolic Disorders

advertisement