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What are the features of the galactosemia?
Galactosemia is a genetic disorder that affects the body's ability to process a simple sugar called galactose. Symptoms may include jaundice, poor weight gain, feeding difficulties, liver enlargement, and cataracts. If left untreated, it can lead to serious complications such as liver damage, kidney problems, and intellectual disabilities.
What type of tissue prevents a kidney from floating?
simple squamous epithelium
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.
START stands for?
simple, triage and rapid treatment
What does START stand for?
Simple Triage and Rapid Treatment
What does START stand for in?
Simple Triage and Rapid Treatment
What are some great skin care tips for people with acne?
Keep it natural! No matter what treatment you use for acne, make sure everything else is as simple and natural as possible. This includes make-up, soap, moisturizer and anything else that may effect the balance of your skin and the effects of your acne treatment.
START stands for Simple Tasking and Rescue Transport Simple Triage and Rapid Treatment Sudden Trauma and Rescue Treatment Simple Treatment and Recovery Transport?
START stands for Simple Triage and Rapid Treatment. It is a system used in emergency situations, particularly mass casualty incidents, to quickly assess and categorize patients based on the severity of their injuries. The goal is to ensure that those who need immediate care receive it as efficiently as possible.
How so3 effects cement strength?
very simple
What does START stands for in CBRNE?
Simple Triage and Rapid Treatment
What does the ems mnemonic START refer to?
Simple Triage and Rapid Treatment
What are the effects of heart diseases?
very simple. you'll die.
