Deficiency of ornithine transcarbamylase

Deficiency of ornithine transcarbamylase (OTC) is a rare inherited metabolic disease that affects the urea cycle and that affects one in 50,000 newborns. It is caused by the lack of a gene linked to chromosome X.

A deficiency of this enzyme - ornithine transcarbamylase - increases rates of urea in the blood plasma and may cause irreversible damage in newborns, when not diagnosed time.1

The symptoms observed in up to 48 hours of life, are lethargy, severe drowsiness, hypotonia, vomiting and thermal instability.

The disease can also be diagnosed in the prenatal period, through examinations of fetal DNA

Phosphofructokinase deficiency

Phosphofructokinase deficiency, known as disease Tarui1 2 glucogênese also called Type VII is a metabolic disease due to a deficiency of the enzyme phosphofructokinase, which converts fructose 6-phosphate to fructose-1 ,6-bisphosphate in step 3 glycolysis.

Malnutrition

Malnutrition is a disease caused by improper diet, low calorie and low protein. It can also be caused by malabsorption of nutrients or anorexia. Influences of social, psychiatric or simply pathological. Happens mainly among low-income individuals and especially children in underdeveloped countries.

According to Doctors Without Borders each year from 3.5000000 to 5,000,000 children under five die of malnutrition.

Causes

The most frequent cause of malnutrition is poor diet. Still, other diseases can trigger malabsorption or feeding difficulty and cause malnutrition and lack of food.

Pathophysiology and clinical

For an individual primarily with normal nutritional status, while having their food highly limited, suffers primarily with energy expenditure. Consumed quickly osATPs produced by mitochondria and then tissue glucose and blood insulin release.

With the depletion of glucose, the next energy source being used is the glycogen stored in the muscles and liver. He is quickly lysate into glucose and provides a reasonable supply of energy. Its depletion will cause apathy, prostration and even syncope - the brain uses only glucose and ketone bodies as an energy source suffers greatly when there hypoglycemia.

Then fat (triglyceride) is freed from fat reserves, is broken into more fatty-acid glycerol. Glycerol is transported to the liver to produce new molecules of glucose. The fatty acid by beta-oxidation to form ketones causes increased blood acidity (pH 7.4 sanguine usual). The accumulation of ketone bodies in the blood can lead to the development of cetomia, progression tends to evolve with the emergence of keto-acidosis (pH <7.3) compensated by the body to release bicarbonates in circulation.

The skin gets thicker, without subcutaneous adipose tissue. In this step, the proteins of the muscles and liver are now broken into amino acids for these pass through gluconeogenesis to be a new source of glucose (energy). In fact, the body can still use various substances as an energy source beyond these, if possible. There is great loss of muscle mass and the individual features are closer to the skeleton. Muscle strength is minimal and the result is the following death.