Documente Academic
Documente Profesional
Documente Cultură
SIGNS :
Initially healthy appearing neonate with decompensation after several days Often seen after institution of protein feedings Lethargy Poor feeding Vomiting Hypotonia Respiratory distress, tachypnea, apnea Irritability Seizure activity Neurologic deterioration leading to coma Death
The diagnosis of Hyperammonemia involves identifying the cause of the condition. Medical examination should include: Liver function tests Coagulation tests Measurement of acetaminophen levels Viral serologies In case of a suspected IEM, patients should undergo medical tests that evaluate the levels of organic acid, amino acids and orotic acid in the urine. A liver biopsy may be considered for confirmation of the diagnosis of the disease. Quantitative plasma and Carnitine evaluation should also be done. If an acute liver failure is suspected due to drug usage, the social history should be considered and a careful medical treatment has to be carried out. Abdominal CT scanning may help in an accurate diagnosis. The differential diagnosis of Hyperammonemia should aim at distinguishing the condition from other similar disorders, such as Portal vein thrombosis Fatty infiltration & IEM
The treatment of Hyperammonemia aims at restricting the intake of ammonia as well as increasing its excretion. Physicians make this possible by prescribing pharmacologic agents like Sodium benzoate and Intravenous Sodium Phenylacetate. These are commonly used as adjunctive therapy for curing the condition in patients suffering from deficiency of Urea Cycle Enzyme. In hyperammonemia ammonia directly affects the CNS .The role of the neurologist is to provide a basic status evaluation for later reference during follow-up care. This evaluation is especially useful in the primary genetic entities, in which recurrence is a virtual certainty and the risk of additional nervous system compromise exists.
MANAGEMENT :
People suffering from chronic disorders are at a life-long risk of suffering from Hyperammonemia episodes. For such patients, management involves long-time follow up and monitoring of the ammonia levels. A multidisciplinary approach, involving Genetic, Dietary, Metabolic, Pediatric and Neurological factors, needs to be followed for this disease. Specific supportive plans need to be used for dealing with acute episodes. Therapies used for this disorder need to focus on controlling the symptoms and avoiding its acute episodes.
1.
http://www.ncbi.nlm.nih.gov/sites/ga?disorder=Hyperammonemia