About urea cycle disorder, arginino succinase ...

What is urea cycle disorder, arginino succinase ...?

Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. Argininosuccinic aciduria is inherited as an autosomal recessive trait.

The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood.

What are the symptoms for urea cycle disorder, arginino succinase ...?

Complete UCD: This means your baby has a severe or total lack of the enzyme. You’ll notice symptoms in the first couple of days:

  • Fussy
  • Sleepy or sluggish
  • Can’t feed
  • Vomits
  • Low body temperature
  • Problems with posture
  • Seizures
  • Fast breathing that becomes slow
  • Coma

What are the causes for urea cycle disorder, arginino succinase ...?

Parents pass these diseases down to their children through defective genes. We all inherit two copies of our genes, one from each parent. With most UCDs, you must get a defective gene from both parents to get the disease. The genes tell your child’s body how to break down protein.

One UCD, called ornithine transcarbamylase (OTC) deficiency, is what doctors call a sex-linked disorder. Mothers carry the gene on their X chromosome, and they mostly pass it to their sons.

What are the treatments for urea cycle disorder, arginino succinase ...?

UCDs are life-threatening. Don’t wait to get treatment.

A team of health professionals will care for your child. They will first do these three treatments at the same time:

  • Dialysis to remove ammonia from their blood
  • Feeding them supplements of sugars, fats, and amino acids
  • Medicines to remove extra nitrogen

Long-term treatment can manage UCD symptoms. Your child will need frequent blood tests throughout their life to check ammonia levels. Stresses on their body -- like illness, injury, or surgery -- can cause their levels to rise. During those times, you’ll need to give them extra calories so their body has plenty of fuel.

Long-term treatment will include:

  • A low protein, high-calorie diet
  • Medications to remove nitrogen
  • Supplements of amino acids
  • Drinking plenty of water

A liver transplant can reverse the symptoms of a urea cycle disorder.

What are the risk factors for urea cycle disorder, arginino succinase ...?

Urea Cycle Disorder (UCD) affects about 1 in 35,000 newborns.

  • Currently, there is no clarity regarding the exact incidence of these disorders. Many infants born with these defects die without a clear diagnosis or many cases are not diagnosed.
  • According to researchers, urea cycle disorders in newborns are 1 in 10,000 as of April 2000. This indicates a marked increase in the identification and diagnosis of these disorders in the recent years.
  • Urea Cycle Disorder are inherited diseases -parents pass these diseases down to their children through defective genes. A child inherits two copies of its genes, one from each parent. Genes tell your child’s body how to break down protein. With most UCDs, the child gets a defective gene from both parents to get the disease.


Conditions
Cycle of biochemical reactions,Lethargy,Coma
Drugs
Sodium phenylbutyrate or buphenyl,Lactulose,Neosporin,Pharmaceutical grade L-citrulline supplements,L-arginine,Antacids,Liver transplant
Symptoms
In the neonatal period: lethargy, seizures, hypotonia (poor muscle tone), respiratory distress, and coma,In childhood: hyperactive behavior, screaming and self-injurious behavior, and refusal to eat meat or other high-protein foods,In Adulthood: stroke-like symptoms, episodes of lethargy, and delirium

Is there a cure/medications for urea cycle disorder, arginino succinase ...?

Urea Cycle Disorder (UCD) can become life-threatening, if left untreated.

The initial set of treatments for a child include:

  • Dialysis for removing ammonia from their blood.
  • Feeding supplements of sugars, fats, and amino acids
  • Medicines to remove extra nitrogen.
  • Frequent blood tests will be needed throughout their life to check ammonia levels.


Long-term treatment will include:

  • A low protein, high-calorie diet
  • Medications to remove nitrogen
  • Supplements of amino acids
  • Drinking plenty of water
  • A liver transplant can reverse the symptoms of a urea cycle disorder.


Treatment with drugs include:

  • Sodium phenylbutyrate or buphenyl, which provides alternative ammonia removal pathways and prevents hyperammonemia. Sodium benzoate is also used for continual ammonia removal from the bloodstream.
  • Lactulose and Neosporin, when taken orally, can help prevent ammonia production by bacteria in the colon. Multivitamins, calcium and antioxidant supplements are also prescribed.
  • Antacids are often used to relieve gastrointestinal side effects of these drugs such as acid reflux and stomach ache.


Conditions
Cycle of biochemical reactions,Lethargy,Coma
Drugs
Sodium phenylbutyrate or buphenyl,Lactulose,Neosporin,Pharmaceutical grade L-citrulline supplements,L-arginine,Antacids
Symptoms
In the neonatal period: lethargy, seizures, hypotonia (poor muscle tone), respiratory distress, and coma,In childhood: hyperactive behavior, screaming and self-injurious behavior, and refusal to eat meat or other high-protein foods,In Adulthood: stroke-like symptoms, episodes of lethargy, and delirium

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