Specific code icon 2014 ICD-10-CM Diagnosis Code E72.4

Disorders of ornithine metabolism

  • E72.4 is a billable ICD-10-CM code that can be used to specify a diagnosis.
  • On October 1, 2015 ICD-10-CM will replace ICD-9-CM in the United States, therefore, E72.4 and all other ICD-10-CM codes should only be used for training or planning purposes until then.
Clinical Information
  • An inherited urea cycle disorder associated with deficiency of the enzyme ornithine carbamoyltransferase, transmitted as an x-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (menkes, textbook of child neurology, 5th ed, pp49-50)
  • An x-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.
  • An x-linked urea cycle metabolic disorder characterized by deficiency of ornithine transcarbamylase, resulting in the accumulation of ammonia in the serum. Symptoms include vomiting, lethargy, and coma.
  • 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.
Applicable To
  • Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome
  • Ornithinemia (types I, II)
  • Ornithine transcarbamylase deficiency
Description Synonyms
  • Deficiency, ornithine transcarbamylase
  • Disorder of ornithine metabolism
  • Hyperornithinemia hyperammonemia homocitrullinemia
  • Hyperornithinemia hyperammonemia homocitrullinemia syndrome
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  • Ornithine carbamoyltransferase deficiency
  • Ornithine metabolism disorder
Type 1 Excludes
  • hereditary choroidal dystrophy (H31.2-)
Mortality Data
  • Between 1999-2007 there were 44 deaths in the United States where ICD-10 E72.4 was indicated as the underlying cause of death [source: cdc.govlink to cdc.gov]
  • ICD-10 E72.4 as underlying cause of death data broken down by: gender, age, race, year
ICD-10-CM E72.4 is grouped within Diagnostic Related Group (MS-DRG v30.0):
  • 642 Inborn and other disorders of metabolism
Convert ICD-10-CM E72.4 to ICD-9-CM
The following ICD-10-CM Index entries contain back-references to ICD-10-CM E72.4: