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What else can I help you with?
What congenital abnormalities of the urinary system is only found in male infants?
Hypospadias Found only in male infants; urethral orifice is located on ventral surface of penis.
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.
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 is congenital spinal defect?
Congenital means existing from birth. A congenital spinal defect is a spinal defect that a person is born with, such as, for instance, Spina Bifida. Spina Bifida is not the only congenital spinal defect that exists.
Do both parents have to be a carrier of galactosemia for the child to be a carrier?
No, if one parent is a carrier of galactosemia and the other parent is not, the child has a 50% chance of being a carrier as well. It only requires one parent to pass on the gene for the child to be a carrier.
What simple treatment prevents most of the ill effects of galactosemia?
The only treatment of the ill effects from galactosemia is to eliminate lactose and galactose from your diet. Other side effects of this condition include speech deficits, ataxia, dysmetria, and diminished bone density.
What is galactosemia?
Galactosemia is a rare genetic metabolic disorder, in which an individual (usually an infant) lacks the enzyme GALT, which breaks down the sugar galactose in the body. Since galactoseis produced by the breakdown of lactose (in milk) into glucose, this sugar rapidly accumulates in the body, and may result in damage to the kidneys, liver, eyes, and brain.(see the related link)
Is Lactose intolerance dominant or recessive trait?
Lactose intolerance is typically considered a recessive trait. It is caused by a reduced ability to produce the enzyme lactase, which digest lactose. If an individual inherits two copies of the gene associated with lactose intolerance (one from each parent), they are likely to be lactose intolerant.
You were told your son had galactosemia and he doesnt can you sue?
Only if you can demonstrate that it caused some damage. Or you can just be happy that your son is healthy and not look for a way to cash in on the experience.
Is there a gene therapy available for galactosemia patients?
Galactosemia is a deficiency in the enzymes galactokinase or uridyl transferase, thereby affecting the synthesis and degradation of glycogen synthesis/galactose metabolism. At this point, there is no gene therapy available for treatment - treatment is only through strict dietary control.
What are the causes of Mittendorf dot?
It cannot be caused since it is congenital it only has a chance of happening.
What disorder and or disability is worse Mild Moderate Severe or Profound?
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. DefinitionA 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 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.
