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.

Leucine

Isoleucine

Valine

alpha-ketoisocaproate

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

1559 mol/g creatinine

78-195

463 mol/g creatinine

125-390

415 mol/g creatinine

113-369

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]

(4 marks)

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