Immunology question
Exercise 3
The data in the table below represents part of the laboratory analysis for a five day old female child rushed into hospital unconscious.
Table 2.Laboratory analysis.
|
Analyte |
Patient Value |
Reference Values |
|
Blood |
|
|
|
Leucine |
2470 mol/L |
40-158 |
|
Isoleucine |
850 mol/L |
13-81 |
|
Allo-Isoleucine |
127 mol/L |
<5 |
|
Valine |
970 mol/L |
85-334 |
|
Glutamate |
72 mol/L |
11-79 |
|
Glutamine |
806 mol/L |
475-746 |
|
Phenylalanine |
60 mol/L |
34-101 |
|
alpha-ketoisocaproate |
876 mol/L |
24-44 |
|
|
|
|
|
Urine |
|
|
|
Leucine |
1559 mol/g creatinine |
78-195 |
|
Isoleucine |
463 mol/g creatinine |
125-390 |
|
Valine |
415 mol/g creatinine |
113-369 |
|
alpha-ketoisocaproate |
287 mol/g creatinine |
<15 |
|
|
Questions (exercise 3):
a) What condition is the child suffering from? Explain your ‘diagnosis’ in terms of each of the data in the table.
(5 marks)
i) What is the underlying [biochemical] cause of the condition the patient is suffering from? Include details of any relevant enzymatic reactions/pathways.
(3 marks)
j) What‘unusual’ metabolite, not listed above, would you also expect to be found in the urine of the child? Explain how this metabolite might be related to the diagnosed disorder.
(3 marks)
k) Once stabilised the child was maintained on dietary therapy. Outline what form the dietary therapy would take, including any ‘supplements’ that may be added to the basic diet as required. [please note the patients age]