Question

Biochemistry problem

A 12-year-old patient has an enlarged abdomen. She has a history
frequent episodes of weakness and sweating. Its development has been slow. The
Physical examination revealed a weight of 22.4 kg (low), height of 128 cm (low). Have a
normal heart and lungs. The liver was enlarged, and it was poor
musculature. The laboratories of the fasting patient are shown to
continuation:

                    Patient         Normal Range
Glucose (mmol / L)     2.8          3.9-5.6
Lactic acid (mmol / L) 6.6          0.56-2.0
Pyruvate (mmol / L)    0.43         0.05-0.10
pH                     7.25         7.4

A liver biopsy confirmed enlarged liver and high glycogen levels.
The following enzyme results were obtained:
                            Patient    Normal value
Glucose-6-phosphatase (G6P) 22         214

a) Explain the reasons for hypoglycemic episodes
b) What is the nature of acidosis

Answer 1

The boy is suffering from Von Gierke's disease - which is also known as Glycogen storage disease Type 1.

this disease occurs due to absence of Glucose - 6 - phosphatase. This enzyme is responsible for conversion of glucose - 6 - phosphate to glucose. The glucose formed contributes to the glucose level present in blood.
'When the enzyme is absent there is less formation of glucose from glu-6-phosphate (which is formed from glycogen breakdown). This leads to frequent hypoglycemia.

The acidosis here is lactic acidosis. It is also contributed by the ketone bodies formed due to more and more fatty acid breakdown and formation of acetyl CoA which ultimately leads to formation of ketone bodies.
'on the other hand, Hypoglycaemia stimulates secretion of catecholamines, which cause muscle glycogen to breakdown producing Lactic acid and lactic acidosis.