Hyperammonemia – Causes, Symptoms and Treatment

Hyperammonemia is not a real disease; it is an abnormality sign that may increase the level of Ammonia in the human body. Increased Ammonia level can cause various symptoms that seems to be a single disease.

The normal level of Blood ranges from 10-40 liters. The level of soluble Ammonia in a healthy human being is 5 liters of Circulating Blood is 150 mcg and about 1000 mg of Urea Nitrogen is also present in the body. Urea is the end product of Ammonia metabolism, the inequality in Blood level of material and the product shows that it has 2 following functions

  • The Central Nervous System is protected from dangerous effects with the help of Ammonia.
  • The metabolic system produces Urea, which is very efficient.

Source : wikimedia

An individual becomes a Hyperammonemic if the conversion system is damaged. In newborn babies, the damage to the conversion system is usually caused by the Genetic defects but in older people, this damage is usually caused by the Liver diseases.

What is Hyperammonemia?

It is a Metabolic disease that is caused by the high level of Ammonia in the Blood. It is a severe condition that can cause other problems like Encephalopathy and death.

Types of Hyperammonemia

There are 2 types of Hyperammonemia, which are as follows:

  1. Primary Hyperammonemia
  2. Secondary Hyperammonemia
  1. Primary Hperammonemia

    This type of Hyperammonemia is caused due to different inborn metabolic complications that get obvious by the reduced level of Enzymes present in the Urea cycle of a human being.

  2. Secondary Hyperammonemia

    This disorder is caused from the inborn liaison Metabolic defects which gets obvious by a reduced amount of Enzymes, which are not the components of the Urea Cycle including Propionic Acedemia and Methylmalonic Acidemia. This condition is caused by the inappropriate functioning of cells that can damage the metabolism. Hepatic Failure is also 1 of the cause of that may affect the metabolic system.

Symptoms of Hyperammonemia

There are many physical symptoms of this condition. Many of the researchers have identified different symptoms of this disease :

some of them are as follows

  • Dehydration
  • Laziness
  • Lethargy
  • Increased rate of respiration
  • Decrease in muscular strength

Patients suffering from this disorder are also found to have more Fontanelles than normal. Fontanelles are the spots on the Skull of babies, where the bones are not completely formed.

Causes of Hyperammonemia

There are 2 causes of this condition. This disorder can also be caused by the increased production of Ammonia. The type of Hyperammonemia, which occurs from decreased Ammonia, can occur due to the side effects of different medicines.

Following are the causes of Hyperammonemia

  • Fulminant Hepatic Failure
  • Portosystemic shunting
  • IEM

This can also take place due to the procedure that decreases the removal of Ammonia.

Few conditions that increase the Ammonia production are

  1. Protein metabolism
  2. Medications
  3. Physiologic stressors
  1. Protein Metabolism

    Protein Metabolism increases the level of Ammonia in the Blood and may accompany other conditions like GI Hemorrhage, Trauma, Total Parental Nutrition and the use of Steroids.

    Upper Gastrointestinal Bleeding

    Source by : wikimedia

  2. Medications

    Some medicines disturb the Urea Cycle and cause the Hyperammonemia. The medicine Glycine, which is used to treat the transurethral resection of Prostate, It also increases the production of Ammonia in the human body.

  3. Physiologic Stressors

    There are some physiologic stressors, which lead to stress and also give rise to Hyperammonemia in the people, who are suffering from this disease.

These elements may include

  • Changes in the diet
  • Fever
  • Pneumonia
  • Pregnancy
  • Infection with urease-splitting organisms
  • GI bleeding
  • Infection in the respiratory tract
  • Respiratory diseases

Idiopathic Hyperammonemia – IHA

This is a medical condition in which the elevated level of Ammonia is not proportional to the Liver dysfunction without the occurrence of Metabolic disorder. Some other conditions that may increase the production of Ammonia include Herpes Infection, Multiple Myeloma, Urinary diversion and Infection with the organisms split etc.

A person may not suffer from this disease unless he or she has any defect in the system of Metabolic conversion.  In newborn babies, this condition may occur from the Genetic defects. In adults, this Hyperammonemia is caused by the Liver diseases. Genetic disorders may also be a reason of this disease for adults.

Hyperammonemia and Liver Failure

In adults, severe Hyperammonemia is most usually caused by the Fulminant Hepatic failure. Every year, about 2,000 people suffering Liver failure may also suffer from this disease.

Liver Failure

Source by : wikimedia

Liver failure can occur due to following reasons

  • Acetaminophen Toxicity
  • Reaction of drugs
  • Hepatitis A and Hepatitis B
  • Idiopathic Causes
  • Viral Infections
  • Autoimmune diseases
  • Conditions related to Pregnancy including Eclampsia
  • Toxins like Herbs and Mushrooms etc.

The Liver is 1 of the important organ of a human body and it is responsible for the deficiency of Ammonia. Liver dysfunction can cause inappropriate Metabolism and reduction of Ammonia. This may lead to the reduction of Ammonia and removal of Ammonia from the human body.

Diagnosis of Hyperammonemia

The diagnosis of this condition may include some tests.

Following are the tests for this disease

  • Tests of Liver function
  • Coagulation tests
  • Measurement of Acetaminophen level in the human body
  • Viral Serologies

In case of this condition, patients should also be tested to know about the levels of Organic Acid, Amino Acid and Orotic Acid in the Urine.

A Liver Biopsy is also done to confirm the diagnosis of this disease. Quantitative Plasma and Carnitine Evaluation should also be done for the diagnosis.

If severe Liver Failure is caused due to the use of different drugs, the history of the patient and careful treatment is made to treat this condition.

CT Scan of the Abdomen is also carried out for the diagnosis of this disease.

Differential Diagnosis of Hyperammonemia

The differential diagnosis of Hyperammonemia focuses at the distinctive condition of this disorder and some similar diseases like

  • Portal Vein Thrombosis
  • Fatty Infiltration
  • IEM

The primary cases of this disorder are differentiated from the Urea Cycle defects in the adults and newborns. Secondary cases should be differentiated from the Organic Acidopathies, Fatty Acid Oxidation defects and Reye’s Syndrome.

Treatment of Hyperammonemia

The treatment of this condition focuses at limiting the intake of Ammonia and increasing the excretion. Physicians suggest the patients to take Pharmacologic elements including Sodium Benzoate and Intravenous Sodium Phenylacetate. These are used as the Adjunctive Therapy for the treatment of this disorder for the patients who are suffering from the deficiency of Urea Cycle Enzyme.

Prognosis of Hyperammonemia

If this condition is not treated, it can lead to the severe Brain disease known as Encephalopathy. This condition may include 100% mortality, if proper care is not given. The prognosis of this disorder is good, if the problem is treated carefully and in time.

Management of Hyperammonemia

People suffering from severe disorders have risk of this disease for the whole of their life. These types of patients should take regular check-ups and monitoring of level of Ammonia in the human body.

The Genetic, Dietary, Metabolic and Neurological factors should be strictly followed for the disease.  Different Therapies that are used for the treatment may reduce the symptoms and the harmful effects of this disorder.

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