Difference between revisions of "Hyperammonemia"

(Background)
(Specific types)
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*Congenital  
 
*Congenital  
 
**Genetic
 
**Genetic
 
====Specific types====
 
 
The following list includes such examples:
 
* {{OMIM|311250}} - hyperammonemia due to [[ornithine transcarbamylase deficiency]]
 
* {{OMIM|606762}} - [[hyperinsulinism-hyperammonemia syndrome]] ([[glutamate dehydrogenase 1]])
 
* {{OMIM|238970}} - [[hyperornithinemia-hyperammonemia-homocitrullinuria]]
 
* {{OMIM|237310}} - hyperammonemia due to [[N-acetylglutamate synthetase deficiency]]
 
* {{OMIM|237300}} - hyperammonemia due to [[carbamoyl phosphate synthetase I deficiency]] ([[carbamoyl phosphate synthetase I]])
 
* {{OMIM|238750}} - [[hyperlysinuria]] with hyperammonemia (genetics unknown)
 
* [[Methylmalonic acidemia]]
 
* [[Isovaleric acidemia]]
 
* [[Propionic acidemia]]
 
* [[Carnitine palmitoyltransferase II deficiency]]
 
* [[Transient hyperammonemia of the newborn]], specifically in the preterm
 
  
 
==Clinical Features==
 
==Clinical Features==

Revision as of 10:23, 18 July 2020

Background

Pathophysiology

  • Acquired: liver failure results in shunting of blood from the liver to the inferior vena cava, decreased filtration of blood and removal of nitrogen-containing toxins by the liver, and then hyperammonemia.
  • Congenital: Defect in one of the enzymes of the urea cycle, which leads to lower production of urea from ammonia.

Types

Primary vs. secondary

  • Primary
  • Secondary
    • Caused by inborn errors of intermediary metabolism (i.e. reduced activity of enzymes that are not part of the urea cycle)

Acquired vs. congenital

  • Acquired
  • Severe dehydration (from small intestinal bacterial overgrowth)
  • Glycine toxicity (CNS symptoms and nausea)
  • Congenital
    • Genetic

Clinical Features

Differential Diagnosis

Evaluation

Management

Disposition

See Also

External Links

References