What causes Galactosemia?

Answer 1

Galactosemia is a very rare disease that is received through a recessive trait. It is hardly diagnosed but can also be very easily confused with lactose intolerance. Though the two can be very similar but they are very different. Galactosemia is when your body cannot process galactose and lactose intolerance is when your body cannot process lactose. Lactose and galactose can be found in generally the same food group, dairy. The very important difference between the two is that lactose intolerance causes the symptoms of gas, cramps and diarrhea and galactosemia causes excess fat to build up in the brain, cause mental retardation and finally death.

Answer 2

Galactosemia. There are 3 main types of galactosemia which are distinguished based on their genetic causes, signs and symptoms, and severity. #1. Classic galactosemia (type 1) - the most common and severe type. #2. Galactokinase deficiency (type 2) - caused by mutations in the GALK1 gene and characterized by a deficiency of the enzyme galactokinase 1. or#3 Galactose epimerase deficiency (type 3). There is also a "variant" of classic galactosemia called Duarte variant galactosemia, in which a person has mutations in the GALT gene but has only partial deficiency of the enzyme. Infants with this form may have jaundice, which resolves when switched to a low-galactose formula. Some studies have found that people with this form are at increased risk for mild neurodevelopmental problems, but other studies have found there is no increased risk. The risk may depend on the extent of the deficiency. Depending on the type of galactosemia, treatment may involve removing galactose from the diet (as soon as the disorder is suspected), calcium supplementation, and individualized care for any additional symptoms. The long-term outlook for people with galactosemia varies depending on the type, symptoms present, and commitment to the diet.

classic galactosemia (cg)| a life-threatening metabolic disease. severe galactosemia. severe galactose restriction. of a severe: galactose free diet or a severe: "no galactose diet." classic galactosemic's has no: enzyme's at all.

Diagnostic methods

In many countries, infants are routinely screened at birth, for galactosemia. When neonatal screening is not performed, diagnosis is based on the clinical picture. Diagnosis can be confirmed by assay of the relevant metabolites, enzyme activity and GALT gene mutational analysis.

classic galactosemia is very sever

Duarte galactosemia is a mild variant of classic galactosemia. Unlike the other forms of galactosemia, most affected infants do not develop any concerning signs or symptoms whenever being fed or begin put on a: galactose-containing formula. but this symptom typically resolves quickly when the baby is switched to a low-galactose formula. but, then: durate galactosemia (dg) or: "Duarte variant galactosemia." is: mild/severe. wich has atleast a, mild/severe: galactose free diet (durate galactosemia has a: "low-galactose restriction diet."

galactokinase deficiency| GALK deficiency; Galactosemia 2. (galactosemia type 2)| is a mild type of: galactosemia

GALACTOSE EPIMERASE DEFICIENCY| Galactose-4-epimerase deficiency. (type 4 galactosemia). is a: moderate to severe form of galactosemia.

severities of: galactosemia. from: severe/to: mild

1. type1| classic galactosemia| severe (very severe)

2. type4| galactose epimerase deficiency| moderately severe (verries, from: moderate/to: severe)

3. type3| duarte galactosemia| mild/severe.

4. type2| galactokinase deficiency| mild

galactosemic galactose restriction

1. classic galactocemia| severe diet (severe: "no galactose" diet)

Answer 3

sever type1 classic galactosemia is the most: sever/common type (classic galactosemia) isthe most severe type,.... galactosemia is wors then: lactose intolerance,..... but, what's wors here: galactosemia, lactose, or anaphylaxis, though?

Answer 4

Is galactosemia the same as lactose or milk intolerance? No, galactosemia should not be confused with lactose intolerance. People with galactosemia usually have no problems digesting lactose or absorbing galactose. The problems occur after galactose has entered the blood stream. not true. switch it around! galactosemia iswors, they can't digest! usually have no enzyne's, but, lactose intolerance, just can't have: milk or lactose, i think?

Answer 5

is this "oatmilk goodness nesquik oatmilk." stuff tottally: dairyfree? is it safe for: sever type1 classic galactocemic people or for any: galactosemia? galactosemia is a sever/rare disorder, i was born sever type1 classic galactocemic all i wanna' know, is it safe for galactosemia? i was born with: sever type1 classic galactocemia galactosemia is wors then whatever lactose intolerance is. but. is it safe for: galactosemic people, though?

Answer 6

does galactosemia cause hypoglycemia? pronounced elevation in blood galactose may be associated with hypoglycemia. galactosemia, an hereditary disorder which appears in infants, is evidenced by an increased galactose level in the blood (as shown by increased total reducing sugar levels) and by poor growth. is this true?

Answer 7

background of: severe type1 (classic) galactosemia: classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (galt). a sever: "galactose-restricted diet." has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. for rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international galactosemia's network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patient. Classic galactosemia (CG, OMIM # 230400) is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, E.C. 2.7.7.12). GALT is the second enzyme in the Leloir pathway, the main route of galactose metabolism. CG has a prevalence in western countries of between 1:16,000 and 1:60,000 live birth's. At present, over 300 variations in the GALT gene have been identified, with c.563A>G (p.Gln188Arg) being the most common pathogenic variation among people of European ancestry. The first description of a neonate with galactosemia showing acute systemic toxicity was in 1908. In 1935, the case of an infant with hypergalactosemia and galactosuria who responded well to a lactose-restricted diet at 10 months of age was described In 1956, GALT was characterized as the enzyme that is affected in CG. and in 1988 the GALT gene was identified. The pathophysiology is complex and not fully understood. Various mechanisms have been implicated.

type I (classic and variant galactosemia), type II (galactokinase deficiency) and type III galactosemia (galactose epimerase deficiency)

classic galactosemia based on a large data set of patients.

A total of 509 patients (48.1% male and 51.9% female) from 15 countries havethis disorder of: type1 classic galactosemia

what's: hypergalactosemia?

Answer 8

what is brittish galactosemia? is itthe sama as sever type1 classic galactosemia?

Answer 9

what's wors?

galactosemia vs lactose intolerance

or galactosemia vs milk/dairy or sensative's

or galactosemia vs anaphylaxis

Answer 10

it's wors then: lactose intolerance