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What is galactocemia?


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Anonymous
Answered 2020-08-11 20:36:58

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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Anonymous
2020-09-19 20:37:57
what's worse galactocemia? type1 classic or galt or type 2 durate/non classic or type 3? and what's galt tgalt or galk?
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Anonymous
2020-09-19 20:38:20
what's galt ย galk or tgalt?

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Anonymous
Answered 2020-08-07 20:59:15

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

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Anonymous
Answered 2020-08-07 21:10:14

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?

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Anonymous
Answered 2020-08-10 02:57:36

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

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Anonymous
Answered 2020-08-11 20:42:52

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.

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Anonymous
Answered 2020-08-11 20:48:14

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

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Anonymous
Answered 2020-08-10 16:40:09

Subdivisions of Galactosemia

classic galactosemia

clinical variant galactosemia

biochemical variant galactosemia (Duarte variant galactosemia)

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Anonymous
2020-08-26 13:55:05
what's wors:ย โ€ข Biochemical Variant Galactosemia โ€ข Classic Galactosemia ย โ€ข Clinical Variant Galactosemia or โ€ข Duarte Variant Galactosemia?

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While a mild nut allergy may only induce swelling and discomfort, a severe allergy will cause anaphylatic shock and might kill.


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



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?


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?


btween: 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?


Screening for PKU is done with bacterial inhibition assay (Guthrie test), immunoassays using fluorometric or photometric detection, or amino acid measurement using tandem mass spectrometry (MS/MS). Measurements done using MS/MS determine the concentration of Phe and the ratio of Phe to tyrosine, both of which will be elevated in PKU. Incidence: A rarer form of hyperphenylalaninemia occurs when PAH is normal, but there is a defect in the biosynthesis or recycling of the cofactor tetrahydrobiopterin (BH4) by the patient. This cofactor is necessary for proper activity of the enzyme. The coenzyme (called biopterin) can be supplemented as treatment. Those who suffer from PKU must be supplemented with tyrosine to account for PAH deficiency in converting phenylalanine to tyrosine sufficiently. Dihydrobiopterin reductase activity is to replenish quinonoid-dihydrobiopterin back into its tetrahydrobiopterin form, which is an important cofactor in many metabolic reactions in amino acid metabolism. Those with this deficiency may produce sufficient levels of PAH, but since tetrahydrobiopterin is a cofactor for PAH activity, deficient dihydrobiopterin reductase renders any PAH enzyme non-functional. Tetrahydrobiopterin is also a cofactor in the production of L-DOPA from tyrosine and 5-hydroxy-l-tryptophan from tryptophan, which must also be supplemented as treatment in addition to the supplements for classical PKU. Levels of dopamine can be used to distinguish between these two types. Low levels of dopamine lead to high levels of prolactin. By contrast, in classic PKU, prolactin levels would be relatively normal. Tetrahydrobiopterin deficiency can be caused by defects in four different genes.


Galactosemia is an autosomal recessive trait.


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? (mild fourm of classic galactocemia)


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.


DefinitionGalactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.Alternative NamesGalactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiencyCauses, incidence, and risk factorsGalactosemia is an inherited disorder. This means it is passed down through families.It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups.There are three forms of the disease:Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)Deficiency of galactose kinaseDeficiency of galactose-6-phosphate epimerasePeople with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes.Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose.SymptomsInfants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.ConvulsionsIrritabilityLethargyPoor feeding(baby refuses to eat formula containing milk)Poor weight gainYellow skin and whites of the eyes (jaundice)VomitingSigns and testsSigns include:Amino acids in the urine and/or blood plasma (aminoaciduria)Enlarged liver (hepatomegaly)Fluid in the abdomen (ascites)Low blood sugar (hypoglycemia)Newborn screening in many states will test for this condition.Tests include:Blood culturefor bacteria infection (E. coli sepsis)Enzyme activity in the red blood cellsKetones in the urinePrenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferase"Reducing substances" in the infant's urine, and normal or low blood sugarwhile the infant is being fed breast milk or a formula containing lactoseTreatmentPeople with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.Infants can be fed with:Soy formulaMeat-based formula or Nutramigen (a protein hydrolysate formula)Another lactose-free formulaCalcium supplements are recommended.Support GroupsParents of Galactosemic Children, Inc.www.galactosemia.orgExpectations (prognosis)People who get an early diagnosis and strictly avoid milk products can live a relatively normal life. However, mild intellectual impairment may develop, even in people who avoid galactose.ComplicationsCataractsCirrhosis of the liverDeath (if there is galactose in the diet)Delayed speech developmentIrregular menstrual periods, reduced function of ovaries leading to ovarian failureMental retardationSevere infection with bacteria (E. coli sepsis)Tremors and uncontrollable motor functionsCalling your health care providerCall your health care provider if:Your infant has a combination of galactosemia symptomsYou have a family history of galactosemia and are considering having childrenPreventionIt is helpful to know your family history. If you have a family history of galactosemia and want to have children, genetic counseling will help you make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.Many states screen all newborns for galactosemia. If parents learn that the test indicates possible galactosemia, they should promptly stop giving their infant milk products and ask their health care provider about having a blood test done for galactosemia.ReferencesBerry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 7.