Among the various metabolic alterations of nutrients, 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 related clinical signs that characterize them; below we will describe the most common pathological forms, symptoms and related dietary therapies.
Galactosemia
NB. In the diet, galactose is found almost exclusively bound to glucose constituting lactose.
Galactosemia is caused by the enzyme deficiency of galactose-l-phosphate uridintransferase and occurs early in infants who, by drinking milk, require the aforementioned enzyme for the metabolization of galactose obtained from the digestion of lactose.
Symptoms are: vomiting and stunting, then liver enlargement, jaundice, liver cirrhosis, kidney failure, seizures and mental retardation. Dietary therapy for this sugar disease is simple, ie the elimination of all sources of lactose / galactose; it is necessary to replace mother's milk early with alternative and homogenized milks free of these sugars until adulthood, at which time which the body develops an alternative pathway of galactose metabolism.
There is also another similar form, namely the deficiency of the enzyme galactokinase, which similarly to the previous one determines an accumulation of galactose in the organism. The alimentary therapy is comparable to that described above.
Glycogenosis
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 "reserve branched complex 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 responsible for glycemic control. If the liver lacks the enzymes for the hydrolysis of glycogen, this accumulates, harming the organism, promoting glycogenosis.
There are different forms of glycogenosis determined by the deficiency of different liver enzymes:
- Type I glycogenosis or disease of von Gierke: lack of the enzyme glucose-6-phosphatase which causes hepatic and renal accumulation
- Type III glycogenosis: lack of the "deramifying" enzyme and consequent structural alteration of glycogen
- Type IV glycogenosis: lack of the "ratifying" enzyme, causes hepatic insufficiency from early childhood.
Dietary therapy for these diseases aims at maintaining blood sugar; it is enteral (tube) with a prevalence of carbohydrates over 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 the optimal maintenance of blood sugar.
Mucopolysaccharidosis
Mucopolysaccharidosis is another "disease caused by a" genetic alteration of sugar metabolism. The related complications are skeletal, nervous (SN) and of many other organs (cornea, heart valves, etc.); constitutes a wide range of diseases among which the most important is the Hurler's syndrome, due to enzyme deficiency α-L-iduronidase.
Deficiency of glucose-6-dehydrogenase
This pathology is determined by the "alteration of the" pentose-phosphate cycle "and is reflected by significantly increasing the membrane fragility of red blood cells.
One of the diseases caused by the deficiency of glucose-6-dehydrogenase is favism, which manifests itself with haemolysis (destruction of red blood cells) and jaundice 12-48 hours after taking beans. glucose-6-dehydrogenase the intake of this legume further weakens the membranes of the erythrocytes and promotes their destruction. It is a hereditary disease of the metabolism of sugars, it is transmitted with the X chromosome and the females, who carry it, become less seriously ill than the males.
Fructosuria
Fructosuria is a disease caused by the metabolism of sugars of rare entity; the defect enzyme is the fructose-phosphate-aldolase which prevents the use of food fructose.
It can manifest itself with post-prandial hypoglycemia following the ingestion of foods rich in fructose (probably due to the "increase in insulin) but, in pediatric age, it can cause: growth defects, hepastosplenomegaly, jaundice and hyperuricemia resulting from liver damage and renal. Diet therapy is simple and is 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 deficit of the enzyme sucrase which can be associated with the deficiency of other enzymes: maltase And isomaltase.
Dietary treatment is based on the elimination of sucrose from the diet.
Hereditary lactose malabsorption
Lactose malabsorption or intolerance is a disease caused by the metabolism of sugars and specifically by the deficiency or absence of the enzyme lactase intestinal. It can worsen with age and as a result of suffering from the intestinal mucosa such as a bacterial or viral infection.
NB. Hereditary and acquired malabsorption are etiologically different diseases that must be treated with specific dietary therapies (acquired malabsorption can be improved by the reintroduction of lactose).
Symptoms include 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 the absolute or relative deficiency of insulin as well as by the peripheral resistance to its uptake; this is a chronic disorder characterized by hyperglycemia due to the reduced production of the aforementioned hormone and / or the concomitance of a more or less significant peripheral resistance.
Diabetes mellitus is extremely complex and widespread (plus type 2 of type 1) and type 2 frequently integrates with the metabolic syndrome. Symptoms and clinical signs are different between the two forms of diabetes and also in the different phases of the disease; the treatment is dietary by controlling: the distribution of carbohydrates, the glycemic load, the glycemic index and total calories, and physical activity amplifies the therapeutic effects.
To learn more about the topic, it is advisable to read the dedicated article "Diabetes", at https://www.my-personaltrainer.it/salute/diabete.html.
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