Case report

Patients with fatigue


Peter (22 years) works as a mechanic. He observes that his work exhausts him much more than it was before. Even if he sleeps enough, he feels still tired. In the last month, Peter lost about 6 kg. He go to the toilet often also. It is not a problem during the day, but at night it’s annoying (even three times per night).

He decided to go to the mountains with colleagues to have a rest. Unfortunately, even there feels Peter fatigue. Last day he stayed at the cottage, because his legs barely carried him. When his friends returned from a trip, they found Peter sleeping. They heard a deep breath, and let him to sleep. When the dinner time came, they tried to wake Peter. But without any success. Therefore they called an ambulance immediately.

When the ambulance arrived, the doctor made a basic examination. Peter had weak pulse (frequency 130/min), blood pressure 90/60. Peter was in a serious condition. He breathed deeply and doctor felt something special in his breath, it reminded acetone.


Is acetone common in human body ?

If yes, in what metabolic pathway is it produced ?

If not, how could it get into Peter´s body ?

Doctor decided to go to the hospital immediately. He did not find specific signs of illness. There was a normal physical finding on heart, lungs, abdomen and lower extremities, only skin turgor was decreased and tongue very dry. Peter was dehydrated.

Doctor measured glucose level in Peter´s blood. Peter had 57mmol/l. Doctor knew, where he could find the cause of Peter´s problem.


What is a normal blood glucose level ? Does it change during a day ?

What metabolic pathways use glucose and what produce it ?

What organs play an important role in regulation of glucose level in the blood ?

Upon arrival to the hospital, Peter was admitted to the intensive metabolic care unit immediately. He was given infusions to supplement the loss of fluid and for correct diagnosis it was necessary to take a blood for basic blood tests.

Laboratory values were:

Glycemia  58mmol/l

Lactate  1,3mmol/l

Fatty acids  highly elevated

Plasma osmolarity  highly elevated

Sodium  142mmol/l

Potassium  5,0mmol/l

Arterial Astrup (acid-base balance investigation):

pH  7,0

BE  -28mmol/l (very low – indicates the presence of acids)

Semi-quantitative chemical analysis of urine revealed an increased amount of acids.


Is it probable, that acids present in urine are fatty acids ?

If yes, give reasons.

If not, what other acids could they be ?

Diagnosis seemed to be already final now. The clinical course and laboratory results showed only one explanation. To be absolutely sure, doctors made another blood investigation. They measured C-peptide level in blood. It was very low.


Where and how is C-peptide produced in our body ?

Why did it help to confirm Peter´s diagnosis ?

What is its relation to Peter’s state ?

After few days of proper treatment, Peter´s state completely recovered and he could be released into a home care. However, it doesn´t mean, that Peter is healthy. On the contrary, his illness will accompany him all his life and its complications can kill him one day. Yet today’s treatment offers infinitely better prospect than had patients before year 1922, when doctors began to treat this disease. Before it meant certain and quick death.


Write the overview of energy metabolism and draw disorders of Peter’s metabolism before treatment (focus mainly on the metabolism of saccharides and lipids).

Try to explain reason of Peter’s state.

Suggest how doctors treat this problem.