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cg part#1| Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become seriously ill. Early identification by newborn screening with immediate dietary galactose restriction minimizes or prevents the potentially lethal acute symptoms of CG. However, more than half of individuals with CG still experience long-term complications including cognitive disability, behavioral problems, and speech impairment. Anecdotal reports have also suggested frequent gastrointestinal (GI) problems, but this outcome has not been systematically addressed. In this study we explored the prevalence of GI symptoms among 183 children and adults with CG (cases) and 190 controls. Cases reported 4.5 times more frequent constipation (95% CI 1.8–11.5) and 4.2 times more frequent nausea (95% CI 1.2–15.5) than controls. Cases with genotypes predicting residual GALT activity reported less frequent constipation than cases without predicted GALT activity but this difference was not statistically significant. Because the rigor of dietary galactose restriction varies among individuals with galactosemia, we further tested whether GI symptoms associated with diet in infancy. Though constipation was almost four times as common among cases reporting a more restrictive diet in infancy, this difference was not statistically significant. These data confirm that certain GI symptoms are more common in classic galactosemia compared to controls and suggest that future studies should investigate associations with residual GALT activity and dietary galactose restriction in early life.
Electronic supplementary material: The online version of this chapter (doi:10.1007/8904_2016_575) contains supplementary material, which is available to authorized users.
Classic galactosemia (CG) results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT) activity and affects approximately 1/50,000 live births in the USA (Pyhtila et al. 2015). Following exposure to milk, which contains large quantities of galactose, affected infants can become seriously ill and die if not immediately switched to a low-galactose formula (Berry 2014). Early identification by newborn screening and rapid dietary intervention generally prevents or resolves the potentially lethal acute symptoms of CG (Berry 2014).
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galactosemia, which means “galactose in the blood,” refers to a group of inherited disorders that impair the body's ability to process and produce energy from a sugar called galactose. When people with galactosemia injest foods or liquids containing galactose, undigested sugars build up in the blood. classic galactosemia (GALT) is an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods that contain milk. If a child with GALT eats galactose, undigested sugars build up in the blood rather than being used for energy. durate galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within during birth or a few day's after birth. the variant durate galactosemia, a much milder form of galactosemia, also involves a mutation in the GALT gene. Whereas classic galactosemia completely prevents the normal processing of galactose, the Duarte variant only reduces enzyme activity by ~75%, but not by 100% as in classic galactosemia.
what are the types of galactosemia?
there is atleast four main types of galactosemia disorders:
type 1, or classic and clinical variant galactosemia.
type 2, or galactokinase deficiency.
type 3, or epimerase deficiency.
duarte variant galactosemia.
classic
clinical virant
empirase defencese
galk defencise
durate virant
Anonymous
1. classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within sometime during birth, or, atleast a few days after birth. severe
2. galactosemia type IV is likely to result in a buildup of β-d-galactose. In type I and type III galactosemia, the buildup of galactose 1-phosphate has been proposed to be responsible for many of the manifestations of these diseases. moderate/severe
3. galactose epimerase deficiency (type3 or typeIII) moderate (moderate/severe? moderate? mild/severe. mild/moderate or just: mild?) Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.
4. galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. mild/moderate?
5. durate galactosemia (dg)| mild/severe?
Anonymous
true or fals?
galactocemia type's/severities. galactocemia shortend name
1. classic| type1| severe| GALT| severe
2. uridine diphosphate galactose (udg) epimerase deficiency| type4| GALE| modrate/severe
3. galactose epimerase deficiency| GALE-D; uridine diphosphate galactose| epimerase deficiency| type3| modrate/severe
4. duarte galactosemia| type5 | mild/severe
5. galactokinase deficiency. GALK deficiency. GALK-D. GALK. Galactokinase deficiency galactosemia| type2| mild/modrate
lactose intolerant. type's/severities.
1) classic| severe
2) developmental| modrate/severe
3) congenital| severe
4) semi lactose intolerance| modrate
5) primary| mild/severe
6) secondary| mild/moderate
severities
1. classic or congenital| severe
2. developmental| modrate/severe
3. semi| modrate
4. primary| mild/severe
5. secondary| mild/moderate
Anonymous
cg part#2|
Despite early diagnosis and intervention, most individuals with CG experience long-term complications that can include multiple developmental disabilities. The majority of girls and women with CG also experience primary or premature ovarian insufficiency For years, anecdotal reports of increased gastrointestinal (GI) health problems in CG have been shared by families but not investigated formally. To determine whether children and adults with CG indeed experience increased prevalence of GI symptoms, we performed a systematic survey of GI health among 183 individuals with CG (cases) and 190 controls. To address possible genetic and environmental modifiers of GI outcome in CG we also gathered GALT genotype and retrospective diet information for each case. More than 300 different GALT variants have been reported. and this allelic heterogeneity has been a suspected modifier of outcomes. Recently, trace residual GALT activity predicted from a yeast model system for specific genotypes was associated with both improved scholastic. and ovarian outcomes, suggesting that residual GALT activity might also modify GI outcomes in CG. Another potential modifier of GI outcomes in CG is diet. While the majority of healthcare providers recommend lifelong dietary restriction of milk and other dairy products for their patients with CG, some also recommend restriction of non-dairy foods that contain low levels of galactose. As a result, rigor of dietary galactose restriction varies among individuals with CG. Using GI health outcomes, GALT genotype, and retrospective diet information collected for volunteers in our study we sought to address:.whether cases reported more frequent GI problems than controls. whether presence of predicted residual GALT activity associated with frequency of GI symptoms among cases, and/ or whether rigor of dietary galactose restriction in infancy associated with frequency of GI symptoms among cases. Study Volunteers: Children and adults with classic galactosemia were ascertained by referral from healthcare professionals or self-referral, often following interactions facilitated by the Galactosemia Foundation Controls were recruited in two ways. First, unaffected siblings of CG volunteers participating in the study were recruited as “related controls.” Second, “unrelated controls” were recruited by posting an IRB-approved flyer to the Centers for Disease Control (CDC) parents’ email listserv (a widely subscribed electronic mailing list). All study volunteers completed informed consent prior to joining this IRB-approved study.
Anonymous
What is classic galactosemia? Conditions Classic Galactosemia. Classic galactosemia (GALT) is an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods that contain milk. If a child with GALT eats galactose, undigested sugars build up in the blood rather than being used for energy.
What are the types of galactosemia?
There are three main types of galactosemia:
Classic (type I) Galactokinase deficiency (type II) or: Galactose epimerase deficiency (type III)
Is galactosemia the same as lactose intolerance? 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. lie!
truth: galactosemia should not be confused with lactose intolerance
galactosemia is way worse then li is
Anonymous
Subdivisions of Galactosemia
classic galactosemia
clinical variant galactosemia
biochemical variant galactosemia (Duarte variant galactosemia)
Anonymous
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What is the difference between mild nut allergy's and severe nut allergies?
While a mild nut allergy may only induce swelling and discomfort, a severe allergy will cause anaphylatic shock and might kill.
When was Daiya created?
Daiya was created in 2008.
What is the survival rate for PKU?
100%
What types of milk allergies is there Galactocemia is a severe milk allergy for emample though?
galactocemia is a severe milk/dairy allergy, but, classic galactocemia is the most severe type/form of: galactocemia, but, then. galactocemia is wors then whatever's: lactose intolerance is, though
What types of eating disorder's is theire. including Galactocemia. which Galactocemia is an eating disorder?
can sever type1 classic galactocemia (classic galactocemia| cg) have: daiya item's. ricemilk. hint flavored water. shrimp/seafood's. chicken or: turkey. hotdog's or: hamburger's. or: marshmellow's. or: soy lattae's? or: silk soymilk? silk or: soybean's or: soy milkshake's?
What disorder disabillity and or eating disorder or food allergies is worse out of Galactocemia or Lacose Intollerance?
in disorder's of: galactocemia or: pku's. milk/dairy or lactose allergies or intolerance/lactose intolerance (li) or: soy/nut or: coccnutt allergies/intolerance or: nut/peanutt or other: nut allergies or intolerance. hyper/hypogalactocemia. anaphylaxis. food/dairy, milk or lactose sensative's. autism. metabolic disorder's/metabolic issues. or like: cow's milk allergy (cma). or cow's milk intolerance/sensative's. goat's milk/cheese allergies/sensative's or: intolerance. tart allergies/sensative's or intolerance. wheat allergies/sensative's or: intolerance. multiple food allergies (mfa)+ multiple/multi allergies/sensative's/intolerance. or: multiple food: sensative's/intolerance. EoE/EGID or: eos. FPIES. SBS. reflex issues/disorder's or: acid reflex issues or disorder's. Intestinal Failure Gastroesophageal Reflux (GER). Malabsorption Atopic Dermatitis or Eczema Failure to Thrive (FTT). intolerance issues/disorder's. or: pseudo-obstruction motility disorder (pomd). gi/gastrointestinal issue or: disorder's. seafood/shrimp or shellfish allergies/sensative's or: disorder's, or anything: "tube feeding." related disorder's, what's wors?
What galactocemia is worse type 1 2 or 3?
classic| severe. classic galactosemia, can result in life-threatening complication's (classic galactocemia is the most severe type of this disorder)clinical virant| moderate?biochemical virant| mild/moderate?durate virant| mild/severe?
What causes galactosemia II?
Galactosemia II is caused by defects in both copies of the gene that codes for an enzyme called galactokinase (GALK). The frequency of occurrence of galactosemia II is about one in 100,000-155,000 births.
Is Lactose intolerance dominant or recessive trait?
Galactosemia is an autosomal recessive trait.
What disorder is worse and why autism or dyslexia?
This question is a bit biased; as many of those with high-functioning autism see it not as a curse, but a gift. But common brain disorders which would be considered more debilitating than autism include Alzheimer's disease, multiple sclerosis, Parkinson's disease and Huntington's chorea.
What causes Galactosemia?
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.
What types of eating disorder's is theire. including galactocemia. Galactocemia is an eating disorder?
classic galactosemia. galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency; galactose-1-phosphate uridyltranferase deficiency; galactose-1-phosphate uridyl transferase deficiency; galactose-1-phosphate uridyl-transferase deficiency disease; galactosemia, classic.A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Epidemiology Global prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000 in Western countries. The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected. Clinical description When ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage (jaundice, bleeding tendency, hypoglycemia). In the absence of appropriate treatment (galactose restriction), sepsis (E-coli) and neonatal death may occur. Despite adequate treatment, long-term complications appear including cognitive impairments, motor deficits, ovarian dysfunction with reduced fertility in women and diminished bone density. Male fertility has not yet been thoroughly studied. Etiology Classic galactosemia is caused by mutations in the GALT (9p13) gene encoding the galactose-1-phosphate uridyltransferase enzyme. Mutations that severely impair enzyme activity result in the classic galactosemia phenotype. The so-called variants are mutations associated with higher residual enzyme activity resulting in milder or no features of galactosemia such as the Duarte variant (GALT gene mutation). Diagnostic methods In many countries, infants are routinely screened for galactosemia at birth. 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.Differential diagnosis Differential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate. Antenatal diagnosisPrenatal testing is usually performed via gene mutation analysis by chorionic villus sampling. In at-risk relatives, testing is also possible to search for the mutation when already identified in a family. Genetic counseling. Galactosemia follows an autosomal recessive pattern of inheritance. Parents of an affected child have a 25% chance of having affected children in subsequent pregnancies. Management and treatmentTreatment is based primarily on galactose restriction in the diet. Infants should be fed with soy formula or other lactose-free formula. Patients are advised to follow a lifelong diet. To prevent a diminished bone mass, calcium, vitamin D and vitamin K supplements are recommended if dietary intake does not meet the recommended daily allowance. Monitoring of cognitive and motor development, gonadal function and bone mass is mandatory. Eye examinations are recommended in case of neonatal cataracts or in case of poor dietary compliance. Despite dietary treatment long-term complications occur. Prognosis. Prognosis is dependent on age of diagnosis, disease severity and compliance with dietary restrictions, which affects the onset and course of secondary complications.
