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What disorder and or disability is worse Mild Moderate Severe or Profound?
Wiki User
∙ 12y ago
The worst category for a disorder/disability would be profound.
Wiki User
∙ 12y ago
Anonymous
Anonymous
Anonymous
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.
Anonymous
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
Anonymous
Anonymous
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
Anonymous
Anonymous
Anonymous
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?
Anonymous
Anonymous
Anonymous
Anonymous
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
Anonymous
Anonymous
Anonymous
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. Children with Duarte galactosemia usually do not have serious health effects and may or may not need treatment. is this true?
Anonymous
what's wors:
galactosemia vs thees
hypergalactosemia/hypogalactosemia
pku
IgE/eoe
anaphylaxis/anaphylactic shock
milk/dairy or lactose allergies or/sensative's or/ intolerance/reflex/allergies or: sensative's or: disorder's
celeak desease
reflux issues/acid reflex disorder/issues or: lactose reflex/li reflex
Anonymous
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
Anonymous
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
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