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Ornithine Transcarbamylase Deficiency

Ornithine Transcarbamylase Deficiency: Introduction

Ornithine Transcarbamylase Deficiency: 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. More detailed information about the symptoms, causes, and treatments of Ornithine Transcarbamylase Deficiency is available below.

Symptoms of Ornithine Transcarbamylase Deficiency

Treatments for Ornithine Transcarbamylase Deficiency

  • Treatment generally involves sticking to a low protein diet
  • High ammonia levels in the blood can be managed by using intravenous sodium benzoate, sodium phenylacetate and arginine
  • Severe cases may require hemodialysis to remove toxins from the blood
  • Oral sodium phenylbutyrate and arginine can be used as a long-term therapy
  • Regular blood tests are needed to monitor ammonia and amino acid levels
  • more treatments...»

Wrongly Diagnosed with Ornithine Transcarbamylase Deficiency?

Ornithine Transcarbamylase Deficiency: Complications

Review possible medical complications related to Ornithine Transcarbamylase Deficiency:

Causes of Ornithine Transcarbamylase Deficiency

Read more about causes of Ornithine Transcarbamylase Deficiency.

Less Common Symptoms of Ornithine Transcarbamylase Deficiency

Misdiagnosis and Ornithine Transcarbamylase Deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See ...read more »

Prognosis for Ornithine Transcarbamylase Deficiency

Prognosis for Ornithine Transcarbamylase Deficiency: Timely diagnosis and treatment usually results in a good prognosis with normal growth and learning abilities - treatment is lifelong. In some severe cases, high ammonia levels can cause complications even with treatment.

Ornithine Transcarbamylase Deficiency: Broader Related Topics

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Definitions of 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)

Related Ornithine Transcarbamylase Deficiency Info

Videos about Ornithine Transcarbamylase Deficiency

 

More information about Ornithine Transcarbamylase Deficiency

  1. Ornithine Transcarbamylase Deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Complications
  7. Prognosis
 

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