Galactosemia

Galactosemia is a disease which is caused by an inherited deficiency in enzymes of the carbohydrate metabolism, that are involved in the conversion of galactose into glucose. Symptoms and signs include renal and hepatic disorders, cognitive disorders, cataracts and a primary ovarian dysfunction. The diagnosis is made due to enzyme analysis of red blood cells. The treatment is a galactose-free diet. The prognosis is good with treatment, but the cognitive and general performance parameters are below average.

Galactose is present in dairy products, fruits and vegetables. Autosomal recessive enzyme deficiency disorders cause three diseases.

Galactosemia is a disease which is caused by an inherited deficiency in enzymes of the carbohydrate metabolism, that are involved in the conversion of galactose into glucose. Symptoms and signs include renal and hepatic disorders, cognitive disorders, cataracts and a primary ovarian dysfunction. The diagnosis is made due to enzyme analysis of red blood cells. The treatment is a galactose-free diet. The prognosis is good with treatment, but the cognitive and general performance parameters are below average. Galactose is present in dairy products, fruits and vegetables. Autosomal recessive enzyme deficiency disorders cause three diseases. See also approach in a patient with suspected congenital metabolic disorder galactose-1-phosphate uridyltransferase deficiency This deficiency causes the classic galactosemia. The incidence is 1 out of 62,000 live births, the carrier frequency is 1 of 125. The children are anorexic and yellow for obtaining breast milk or lactose-containing baby food within a few days or weeks. In addition to vomiting, hepatomegaly, poor growth, lethargy, diarrhea and sepsis (usually Escherichia coli) also develop renal disorders (eg. Proteinuria, aminoaciduria, Fanconi syndrome) and lead to metabolic acidosis and edema. Haemolytic anemia may also occur. Without treatment, children have a short stature and develop at puberty cognitive, linguistic and balance deficits. Many have a cataract, osteomalacia (caused by hypercalciuria) and a primary ovarian failure. Patients with the Duarte variant have a milder course. Galactokinase deficiency Patients develop through the increased production of Galaktilol which damages the lens fibers osmotic, a cataract. Idiopathic intracranial hypertension (pseudotumor cerebri) is rare. The incidence is 1 out of 40,000 live births. Uridindiphosphatgalaktose 4-epimerase deficiency There are benign and clinically severe forms of disease. The incidence of benign form is located in Japan in 1 in 23,000 live births; regarding the severe form are not incidence data. The benign form is limited to the white and red blood cells and usually causes no additional clinical pathologies. The severe form causes a syndrome that is indistinguishable from classic galactosemia clinically. It can sometimes happen a hearing loss. Diagnosis Galaktosespiegel enzyme analysis Confirmation of galactosemia is done by an enzyme analysis of red blood cells or liver tissue, or both. The diagnosis is suspected clinically and supported by increased Galaktosespiegel and the presence of other reducing substances in the urine as glucose (eg. B. galactose, galactose-1-phosphate). In most states, it is required that a neonatal screening is done on a lack of galactose-1-phosphate uridyltransferase. (See also check on suspicion of inherited metabolic disorders.) Therapy restriction of galactose in the diet, the treatment of galactosemia is to eliminate all Galaktosequellen in the diet, especially the lactose, which in all dairy products (including milk-based baby food) represents the Galaktosequelle and is used in many products as a sweetener. A lactose-free diet prevents acute intoxication and makes many manifestations reversed (eg. As cataracts), but can not prevent neurocognitive disorders. Many patients also need calcium and vitamins. a low Galactosezufuhr is vital for patients with a Epimerasemangel to ensure certain metabolic processes for the supply of uridine 5′-Diphosphatgalaktose (UDP-galactose).

Health Life Media Team

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