Among the various metabolic nutrient alterations, there is also a wide range of diseases related to sugar metabolism. These disorders are all very heterogeneous, both for the etiological causes and for the symptoms and the relative clinical signs that characterize them; below we will describe the most common pathological forms, symptoms and related food therapies.
galactosemia
NB . In the diet, galactose is found almost exclusively linked to glucose, constituting lactose.
Galactosemia is caused by the enzymatic deficiency of galactose-1-phosphate uridintransferase and occurs early in infants who, drinking milk, require the aforementioned enzyme for the metabolism of galactose obtained from the digestion of lactose.
The symptoms are: vomiting and stunted growth, then enlarged liver, jaundice, liver cirrhosis, kidney failure, convulsions and mental retardation. The food therapy for this sugar disease is simple, that is the elimination of all sources of lactose / galactose; it is necessary the early substitution of mother's milk with alternative and homogenized milks without these sugars until adulthood, when the organism develops an alternative metabolism pathway of galactose.
There is also another similar form, namely the deficiency of the galactokinase enzyme , which similarly leads to an accumulation of galactose in the body. The food therapy is similar to the one described above.
Glycogen
It constitutes a group of sugar diseases characterized by glycogen accumulation with sometimes anomalous structure; the etiology is determined by enzymatic deficiencies in the metabolism of this sugar.
Glycogen is a "branched complex reserve carbohydrate" contained in the liver and muscles, which hydrolyzes free glucose; that in the muscles is used for contraction, while that of the liver is in charge of glycemic control. If the enzymes for the hydrolysis of glycogen are missing in the liver, this accumulates and damages the body, favoring glycogen storage.
There are several forms of glycogenoses determined by the deficiency of different liver enzymes:
- Glycogenosis type I or von Gierke's disease : lack of the enzyme glucose-6-phosphatase which causes hepatic and renal accumulation
- Glycogenosis type III: lack of enzyme "deramatoria" and consequent structural alteration of glycogen
- Glycogenosis type IV: lack of the "ratifier" enzyme, it determines liver failure from early childhood.
The food therapy of these diseases aims at maintaining blood sugar; it is enteral (tube) with prevalence of carbohydrates on the proteins. Unfortunately, in forms I and III, dietary measures are NOT sufficient to keep blood sugar constant and it is necessary to take raw corn starch diluted in water; the latter, thanks to a low glycemic index, is useful for optimal blood glucose maintenance.
Mucopolysaccharidosis
Mucopolysaccharidosis is another disease caused by a genetic alteration of sugar metabolism. The relative complications are skeletal, nervous (SN) and many other organs (cornea, heart valves, etc.); constitutes a wide range of diseases among which the most important is the Hurler syndrome, due to the lack of the α-L-iduronidase enzyme .
Glucose-6-dehydrogenase deficiency
This pathology is determined by the alteration of the "pentose-phosphate cycle" and is reflected by significantly increasing the fragility of the red blood cell membrane.
One of the diseases caused by glucose-6-dehydrogenase deficiency is favism, which manifests itself as haemolysis (destruction of red blood cells) and jaundice 12-48 hours after taking fava beans. In the lack of glucose-6-dehydrogenase, the intake of this legume further weakens the erythrocyte membranes and promotes their destruction. It is a hereditary disease of sugar metabolism, it is transmitted with the X chromosome and the females, who are carriers of it, become less seriously ill than the males.
fructosuria
Fructosuria is a disease caused by the metabolism of rare sugars; the deficient enzyme is fructose-phosphate-aldolase which prevents the use of food fructose.
It can manifest itself with post-prandial hypoglycemia resulting from the ingestion of foods rich in fructose (probably due to the increase in insulin) but, in pediatric age, it can determine: growth defects, epastosplenomegaly, jaundice and hyperuricemia resulting from liver damage and renal. Diet therapy is simple and based on the complete elimination of fructose from the diet.
Sucrose intolerance
It is a disease caused by the altered metabolism of sugars due to the intestinal deficiency of the saccharase enzyme which can be associated with the lack of other enzymes: maltase and isomaltase .
Dietary treatment is based on the elimination of sucrose from the diet.
Hereditary malabsorption of lactose
Lactose malabsorption or intolerance is a disease caused by the metabolism of sugars and specifically by the lack or absence of the intestinal lactase enzyme. It may worsen with age and after suffering from intestinal mucosa as a bacterial or viral infection.
NB . Hereditary and acquired malabsorption are etiologically different diseases that must be treated with specific food therapies (the acquired malabsorption can be improved by the reintroduction of lactose).
The symptomatology includes vomiting and diarrhea and, in hereditary malabsorption, the therapeutic treatment involves the DEFINITIVE elimination of lactose from the diet.
Diabetes mellitus
Diseases caused by sugar metabolism include type 1 diabetes mellitus and type 2 diabetes mellitus (very different disorders).
Diabetes is a multifactorial disease caused by absolute or relative deficiency of insulin as well as by peripheral resistance to its uptake; it is a chronic disorder characterized by hyperglycemia due to the reduced production of the aforementioned hormone and / or concomitance with a more or less significant peripheral resistance.
Diabetes mellitus is extremely complex and widespread (plus type 2 of type 1) and type 2 is frequently integrated into the metabolic syndrome. The clinical symptoms and signs are different between the two forms of diabetes and also at different stages of the disease; the treatment is dietetic through the control: of the distribution of carbohydrates, of the glycemic load, of the glycemic index and of the total calories, and the physical activity amplifies the therapeutic effects.
To deepen the topic it is advisable to read the article dedicated to "Diabetes", at //www.my-personaltrainer.it/salute/diabete.html.
