What disorder and or disability is worse Mild Moderate Severe or Profound?

Answer 1

Classic galactosemia: Other Names: 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. The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79239. Definition

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. appropriate treatment: galactose restriction (no: lactose/ or: galactose) at all. 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. Management and treatment

Treatment 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.

Answer 2

It is not appropriate to label disabilities as "worse" or "better." Each disability or disorder presents unique challenges for an individual. The impact of a disability can vary widely depending on individual circumstances and support systems in place. It is important to approach each person with empathy, understanding, and respect, regardless of the severity of their disability.

Answer 3

The worst category for a disorder/disability would be profound.

Answer 4

what's wors to have?

galactosemia. Glycogen storage disease (GSD, also glycogenosis and dextrinosis). Phenylketonuria (PKU)/phenylalanine (Phe). Immediate Hypersensitivity anaphylaxis. Cytotoxic Reaction anaphylaxis. Immune Complex Reaction anaphylaxis. Delayed Hypersensitivity anaphylaxis.

milk/dairy or lactose Allergies or sensative's&/ or intolerance/ lactose intolerance. or: fpies or: eoe's/ige's?

Answer 5

what's wors: galactosemia. lactose intolerance. pku. celeak desease. cistyc fibroses. milk/dairy or lactose allergies or/sensative's. anafelexis/anaphylactic shock. food allergies/intolerance or: sensative's. feeding tube need's. diabeetie's. or: soy allergies/sensatives. or: reflux issues/acid reflux issues/disorder's. or: eating disorder's. or: anemia/anemic issues or gi issues. or: bulemia/annorexia disorder's?

galactosemiais a very sever/rare disorder

Answer 6

what's wors: galactosemia. lactose intolerance. pku. celeak desease. cistyc fibroses. milk/dairy or lactose allergies or/sensative's. anafelexis/anaphylactic shock. food allergies/intolerance or: sensative's. feeding tube need's. diabeetie's. or: soy allergies/sensatives. or: reflux issues/acid reflux issues/disorder's. or: eating disorder's. or: anemia/anemic issues or gi issues. or: bulemia/annorexia disorder's. fpie's. or cross contamination's issues/sensative's

Answer 7

galactosemia. lactose intolerance. pku. celeak desease. cistyc fibroses. milk/dairy or lactose allergies or/sensative's. anafelexis/anaphylactic shock. food allergies/intolerance or: sensative's. feeding tube need's. diabeetie's. or: soy allergies/sensatives. or: reflux issues/acid reflux issues/disorder's. or: eating disorder's. or: anemia/anemic issues or gi issues. or: bulemia/annorexia disorder's. fpie's. or cross contamination's issues/sensative's or: eoe

Answer 8

galactosemia. type name's/type number's+ severities.

1. sever type1 (classic galactosemia)| most sever type/fourm

2. duarte galactosemia is a mild variant of: classic galactosemia

3. galactokinase deficiency| is a type 2 galactosemia. galactokinase deficiency (GALK), a mild type of galactosemia

4. galactose epimerase deficiency| type 4. is a moderate to severe form of galactosemia

5. galactosemia 3| epimerase deficiency galactosemia (type 3 galactosemia)| mild/moderate

1. classic galactosemia (cg)| very sever

2. galactose epim defcncie 4| moderately severe (moderate/severe)

3. galactokinase galactosemia 2 mildly severe| mild/severe

4. galactosemia 3| epimerase deficiency galactosemia| mildly/moderate| mild/moderate

5. durate galactosemia (dg)| mild

Answer 9

for: galactosemia: severities. true or false: type1| severe type4| moderate/severe type3| mild/severe type2| mild/moderate durate| mild

type name/number.

1. classic galactosemia (cg)| type1| very sever

2. type4| galactose epimerase deficiency| (galc/GALE)|

moderate to severe

3. durate galactosemia (dg)| type5| mild/severe

4. type3| epimerase deficiency galactosemia.

(galactosemia type 3) GALE D| mild/moderate

5. type2| galactokinase deficiency| GALK deficiency. galk| mild

Answer 10

Galactose epimerase deficiency. Other Names: UDP-Galactose-4-epimerase deficiency; GALE deficiency; Galactosemia 3; Epimerase deficiency galactosemia; Galactosemia type 3; GALE-D; Uridine diphosphate galactose-4-epimerase deficiency| galactokinase4/gale4. galactokinase galactosemie4. galactosemie gale4. gale4 galactosemia. classic galactokinase? The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79238. Definition: A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. Epidemiology Overall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known. In severe cases, the disease can be life-threatening. classic galactosemia is the most severest type/form of: galactosemia. Etiology: Galactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme. Genetic counseling: Galactose epimerase deficiency is inherited in an autosomal recessive manner. Prognosis: Occurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet. Galactokinase deficiency. Other Names: GALK deficiency; Galactosemia 2; Hereditary galactokinase deficiency; Galactokinase deficiency galactosemia; GALK-D; Galactosemia type 2. Galactokinase deficiency (GALK) is a mild type of: galactosemia. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood. Children with GALK who are not treated with dietary therapy develop cataracts in the eyes, but otherwise they typically do not have long-term health problems. Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the symptoms of a large brain tumor when no brain tumor is present. This is thought to be caused by increased pressure in the brain from cerebrospinal fluid (CSF) due to elevated levels of a galactose product in the CSF. The severe medical problems that occur with "classic" galactosemia (type 1), such as liver, kidney, and brain damage, typically are not present in people with GALK. GALK is caused by mutations in the GALK1 gene and inheritance is autosomal recessive. The disorder may be suspected in babies with an abnormal newborn screening result, or in babies with cataracts. The diagnosis can be confirmed with biochemical and molecular genetic testing. The treatment is dietary therapy, which involves taking calcium supplements and restricting galactose in the diet throughout life to prevent cataracts. If cataracts develop, they usually resolve with dietary therapy. Children with GALK should have their growth monitored, and both children and adults should consult with a dietitian and have regular eye exams. Duarte Galactosemia: Duarte galactosemia is a mild variant of classic galactosemia, a condition that affects how the body processes galactose (a simple sugar found in milk, dairy products, and other foods). Unlike the other forms of galactosemia, most affected infants do not develop any concerning signs or symptoms even when breastfed or on a galactose-containing formula. Some may develop jaundice, but this symptom typically resolves quickly when the baby is switched to a low-galactose formula. Duarte galactosemia is caused by changes (mutations) in the GALT gene and is inherited in an autosomal recessive manner. People with Duarte galactosemia, specifically, typically have one severe GALT gene mutation and one milder GALT gene mutation, known as the "Duarte variant." Experts disagree regarding the risks and long-term complications of Duarte galactosemia and whether or not dietary interventions are needed. As a result, there is no standard treatment for infants with the condition. Some healthcare providers recommend partial to complete dietary restriction of milk and other high galactose foods for affected infants, but others do not.