Biochemistry Assignment: Urea Cycle Disorder Analysis and Treatment

This biochemistry assignment delves into urea cycle disorder, a genetic disorder resulting from mutations affecting enzymes in the urea cycle. The assignment explains the causes, primarily the over secretion of ammonia due to enzyme deficiencies or metabolic stressors, leading to hyperammonemia and potential brain damage. It details the symptoms, ranging from irritability and lethargy to coma, and the initial signs like reduced body temperature and seizures. Furthermore, the assignment outlines the treatment procedures, which include eliminating excess ammonia through dialysis, reversing catabolic conditions by supplementing nutrients, and pharmacological interventions. The references provided support the information, offering clinical features, diagnostic details, and treatment strategies for this life-threatening disorder.

Running head: BIOCHEMISTRY
BIOCHEMISTRY
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1BIOCHEMISTRY
Answer 1) Urea cycle disorder is defined as the genetic disorder that is cause due to mutation
and result in the deficiency or shortage of whichever one of the six available enzymes present
in the urea cycle. Urea cycle disorder is transmitted from one generation to another. In this
disorder, the liver of the patient fails to produce any one enzyme that is mandatory for the
completion of urea cycle and hence, the human body fails to remove nitrogen that leads to the
accumulation of ammonia into the body resulting brain damage or coma. There are eight
types of urea cycle disorder based on the name of the missing enzymes (Lee, 2017).
Answer 2) The major cause of urea cycle disorder is the over secretion or consumption of
ammonia that can either be due to the absence of enzyme or due to any human activity. The
metabolic stressor such as viruses, consumption of high amount of protein, excessive dieting
or exercise, consumption of drug like prednisone, corticosteroid or valproic and surgery can
lead to the accretion of excessive ammonia within the human body leads to the condition of
urea cycle disorder. The level of ammonia inside the human body rises very quickly if not
treated on time and hence result in adverse events (Mew et al., 2017).
Answer 3) The symptoms of urea cycle disorder (UCD) progress with time if not treated
early from irritability to lethargy and finally to coma. The condition of complete urinary
cycle disorder states that the individual has complete loss of any one urea cycle enzyme that
result in different signs and symptoms. The initial symptoms that is exhibited in the initial
couple of days are as follows (Nagamani et al., 2015):
 Reduced body temperature
 Seizures
 Feeling sluggish or sleepy
 Vomiting
 Facing difficulty with posture

2BIOCHEMISTRY
 Accelerated breathing and fluctuations
In case of severe hyperammonemia, where the accumulation of ammonia is very high and
extremely dangerous for the individual and they suffer from hyperventilation that result in the
condition of respiratory alkalosis. The condition of respiratory arrest and hypoventilation
leads to the condition of enhanced pressure on the individual’s brainstem that is considered as
the most harmful health condition for the patient. Hence, urea cycle disorder causes major
symptoms of hypothermia, neurologic posturing, hypoventilation and hyperventilation.
Answer 4) Urea cycle disorder (UCD) is considered as the life-threatening disorder with the
complex treatment procedure. The initial method for treating the condition is first recognizing
the condition and based on the severity of the condition the treatment plan will be constructed
by the paediatrician. There are three major treatment procedure that is required to be followed
step by step. The treatment and management of urinary cycle disorder (UCD) includes
(Scharschmidt & Mokhtarani, 2019):
 Elimination of excess ammonia from the patient body by performing dialysis or nay
kind of hemofiltration method. This will aim to eliminate ammonia from the blood.
 The next crucial step is to reverse the catabolic condition within the patient body by
supplementing calories, fats, amino acids and sugars.
 The last step in management and treatment of urea cycle disorder is to adapt
pharmacological intervention where appropriate medicine will be given to the patient
that will aim to eliminate excess nitrogen.

3BIOCHEMISTRY
References
Lee, B. (2017). Urea cycle disorders: Clinical features and diagnosis. UpToDate, Waltham,
MA Wolters Kluwer Health.
Mew, N. A., Simpson, K. L., Gropman, A. L., Lanpher, B. C., Chapman, K. A., & Summar,
M. L. (2017). Urea cycle disorders overview. In GeneReviews®[Internet]. University
of Washington, Seattle.
Nagamani, S. C., Diaz, G. A., Rhead, W., Berry, S. A., Le Mons, C., Lichter-Konecki, U., ...
& Berquist, W. (2015). Self-reported treatment-associated symptoms among patients
with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Molecular genetics and metabolism, 116(1-2), 29-34.
SCHARSCHMIDT, B., & Mokhtarani, M. (2019). U.S. Patent Application No. 10/183,004.
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