3. A 15-year-old boy presented with a history of episodic vomiting associated with subacute encephalopathy from the age of one year. There were 2-3 months of asymptomatic periods between the episodes. He was born of non- consanguincous parents at full term had a normal perinatal period with no evidence ofbirth asphyxia. During the hospital stay he had 2 episodesofconvulsive scizures. Investigations revealed high blood ammonia (288 ug/dL, normal level is 40-80 ug/dL), markedly elevated levels of citrulline (2200 umoles/L, normal is 1-55 umoles/L), and low blood urea (5 mg/dL, normal is around 7 to 20 mg/dL). He was treated with anticonvulsives and sodium benzoate, advised a restricted protein diet. What is the reason for the presented symptoms? Why blood urea concentration is reduced? For the answer: a) specify the compound 90% of body nitrogen is excreted in; b) write down the process damaged in this patient; c) point out the enzyme deficient in this clinical case; d) explain the mechanisms of ammonia toxicity; e) explain the expediency of prescribed diet and sodium benzoate.

Biochemistry
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ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
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3. A 15-year-old boy presented with a history of episodic vomiting associated
with subacute encephalopathy from the age of one year. There were 2-3 months
of asymptomatic periods between the episodes. He was born of non-
consanguineous parents at full term had a normal perinatal period with no
evidence ofbirth asphyxia. During the hospital stay he had 2 episodesofconvulsive
seizures. Investigations revealed high blood ammonia (288 ug/dL, normal
level is 40-80 ug/dL), markedly elevated levels of citrulline (2200 umoles/L,
normal is 1-55 umoles/L), and low blood urea (5 mg/dL, normal is around 7 to
20 mg/dL). He was treated with anticonvulsives and sodium benzoate, advised
a restricted protein diet. What is the reason for the presented symptoms? Why
blood urea concentration is reduced? For the answer:
a) specify the compound 90% of body nitrogen is excreted in;
b) write down the process damaged in this patient;
c) point out the enzyme deficient in this clinical case;
d) explain the mechanisms of ammonia toxicity;
e) explain the expediency of prescribed diet and sodium benzoate.
Transcribed Image Text:3. A 15-year-old boy presented with a history of episodic vomiting associated with subacute encephalopathy from the age of one year. There were 2-3 months of asymptomatic periods between the episodes. He was born of non- consanguineous parents at full term had a normal perinatal period with no evidence ofbirth asphyxia. During the hospital stay he had 2 episodesofconvulsive seizures. Investigations revealed high blood ammonia (288 ug/dL, normal level is 40-80 ug/dL), markedly elevated levels of citrulline (2200 umoles/L, normal is 1-55 umoles/L), and low blood urea (5 mg/dL, normal is around 7 to 20 mg/dL). He was treated with anticonvulsives and sodium benzoate, advised a restricted protein diet. What is the reason for the presented symptoms? Why blood urea concentration is reduced? For the answer: a) specify the compound 90% of body nitrogen is excreted in; b) write down the process damaged in this patient; c) point out the enzyme deficient in this clinical case; d) explain the mechanisms of ammonia toxicity; e) explain the expediency of prescribed diet and sodium benzoate.
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