Question

Section 2: Basic Medical Information Current Medical Conditions: Elevated blood ammonia levels Lethargy Fever Low plasma levels of urea Poor feeding Seizures Congenital disorder(s) None Genetic mutation(s) Pending Results Current Medications & Treatments: IV glucose, Liver Dialysis, L-arginine supplements Allergies/Adverse reaction to Treatment: None

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Above is the Patient info, please answer these questions, Thanks in advance!

A) Our daughter has been prescribed several treatments to help with this condition. Please explain how each treatment she has been given will help alleviate her symptoms.

a. IV Glucose

b. L-arginine supplements

c. Liver Dialysis

B) Are there any other diet restrictions should follow and why?

C) The genetic counselor is testing our daughter for mutations in several different genes. Why do they think there is a problem with these specific genes?

D) We have been informed that if there is a mutation in the CPSI gene that a liver transplant may be the only viable long-term treatment option. Why is a mutation in this gene so much worse for my daughter then the other genes under consideration? Why would a liver transplant help her?

E) My daughter has been experiencing extreme lethargy and hypotonia (generalized muscle weakness – called floppy baby syndrome). How are the high levels of ammonia contributing to this symptom? (Think about what happens the ammonia if the urea cycle is impeded).

F) Why did these symptoms not appear until after birth?

Answer 1

A.

a. the doctor diagnosed Hyperammonemia in this condition the diet should be-

Dietary protein, a metabolic source of ammonium, is restricted and caloric intake is provided by glucose and fat.

so IV glucose is given to patient because High protein may increase the Ammonia in blood .

b. L-Arginine supplements give because Arginine or ornithine reduced the blood ammonia nitrogen.arginine mitigates ammonia intoxication in the rat by increasing ornithine carbamoyltransferase activity through increased ornithine availability and not via activation of N-acetylglutamate synthetase. By increasing ornithine carbamoyltransferase activity, ornithine enhances the conversion of ammonia to citrulline and urea.

c. The metabolism of Ammonia is takes place in the liver

The main problem related to CPSI is genetics-based. Sometimes the body does not produce enough CPSI due to a mutation in the genetic code, resulting in poor metabolism of proteins and nitrogen, as well as high levels of ammonia in the body. This is dangerous because ammonia is highly toxic to the body, especially the nervous system, and can result in retardation and seizures.

So the Dialysis is prescribed.

B.Amino acids and ammonia come from protein in the diet. Some evidence shows that patients with cirrhosis do better when they get their protein from vegetables(such as beans, lentils, and tofu) and from dairy products (eggs, milk, yogurt) instead of from meats.

Protein diet should be restricted

C.They think about the genetic counselling because doctor did not find any cause of hyperammonemia. For every Charatcter of the body the gene is responsible. Here for metabolic problem of Ammonia there may a gene Known like CPSI may be respomsible.

D.

The CPSI gene has the major role in Ammonia Metabolism. If mutation is present in this gene the condition more worse in the patient. whereas other genes have low effect of Ammonia metabolism.

Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

In carbamoyl phosphate synthetase I deficiency, the enzyme that regulates the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, and excess ammonia causes neurological problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency.

Liver transplant help to the patient because new liver have the normal gene of CPSI that can metabolise the Ammonia.

E. If urea cycle is impede then the ammonia will increase in the blood.

if the ammonia is severly increase in the blood then it can reach to the brain cause the brain damage that results Seizures and encephalopathies.and muscle weakness.

F. The symptoms not appear until after birth because during the Uterine life all functions of fetus like Respiration, excretion of wastes are done by placenta and mother. So, the symptoms not appear and after birth the problem will appears slowely.