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Galactosemia is burned by a galactose-free diet, which allows for rapid convalescence from the acuate symptoms and A generally good prognosis.
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Materials and methods: 337000 newborns were screened for galactosemia away measuring total brain sugar level, in the laboratory of paraprofessional school.
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Galactosemia was ordinal described in 1908 by von ruess.
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Patients with s135l mutation ar classified in the second type of galactosemia - medical institution variant galactosemia.
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When is the best time to detect galactosemia?
Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome.
What is the natural history of classic galactosemia?
Classic galactosemia (CG, OMIM # 230400) is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, E.C. 2.7.7.12). GALT is the second enzyme in the Leloir pathway, the main route of galactose metabolism.
Is the galactose restricted diet safe for babies?
A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet.
Last Update: Oct 2021
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