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TYPES OF HYPERAMMONEMIA

N-Acetylglutamate Synthetase Deficiency (NAGS)


N-acetylglutamate synthetase deficiency affects the bodys ability to make nacetylglutamate (NAG) which is a required cofactor for the function of carbamyl phosphate synthetase I. Without NAG, CPSI cannot convert ammonia into carbamyl phosphate. Along with OTC deficiency and CPSI, deficiency of N-acetylglutamate is the most severe of the urea cycle disorders. Patients with complete NAGS deficiency rapidly develophyperammonemia in the newborn period. A new experimental treatment for this disease is currently under investigation through the Urea Cycle Disorders Consortium using the compound carbamyl glutamine.

Carbamoylphosphate synthetase I deficiency (CPS-I Deficiency)


Carbamylphosphate synthetase I deficiency affects the livers ability to convert nitrogen to urea. This enzyme takes ammonia and through the use of bicarbonate and ATP produces carbamyl phosphate. This enzyme requires the presence of its cofactor nacetylglutamate.. Patients with complete CPSI deficiency rapidly develophyperammonemia in the newborn period.

Ornithine Transcarbamylase (OTC) Deficiency:


OTC deficiency is the most severe of the urea cycle disorders. Patients with complete OTC deficiency rapidly develop hyperammonemia in the newborn period.

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

Long Term Effects of Neonatal Ammonemia :


Demonstrated correlation between prolonged neonatal hyperammonemic coma and brain damage with impaired intellectual functioning Did not demonstrate correlation between peak ammonia level and level of intellectual impairment

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. Biochemistry by U.Satyanarayana and U.Chakrapani


2. Biochemistry by Nelson cox - Leninger

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http://www.ncbi.nlm.nih.gov/sites/ga?disorder=Hyperammonemia

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