منابع مشابه
Cranial CT in Galactosemia
Before the advent of antituberculous agents, complete surgical excision of intracerebral tuberculoma offered the only chance for survival , generally with poor results 111 . Currently, however, these agents are the treatment of choice for CNS tuberculoma, with surgery reserved for cases of uncontrolled intracranial pressure of failure of medical therapy [21 . Symptomatically, neoplastic and vas...
متن کاملClassic Galactosemia: Indian Scenario.
Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1phosphate uridyltransferase (GALT). Most affected babies develop severe manifestations such as failure to thrive, vomiting, diarrhea, hypoglycemia, hypotonia, jaundice (which is often unconjugated in the beginning) and cataracts within 1-2 weeks of starting milk feeding [1,...
متن کاملTopic Page: Galactosemia
Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classical galactosemia), galactokinase (GALK), or UDP-galactose-4 epimerase (GALE). Of the three, GALT deficiency is the most severe and results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary, and kidney. In GALK deficiency, ingested ga...
متن کاملCataracts in galactosemia
0,"ne purpose of this award to to preserve the name of a great scientist who has contributed so much to the field of ophthalmology. If this were the only purpose, this award would not be necessary, for Dr. Friedenwald is immortalized by his many publications which serve as catalysts for a great number of other investigations. This presentation on the cataracts in galactosemia is an illustration.
متن کاملDietary management of galactosemia.
Galactosemia is detected by newborn screening in New South Wales and managed by the metabolic team at the Children's Hospital at Westmead. Infants with the Duarte variant are not treated. Management is based on the Handbook for Galactosemia prepared in 1998. This handbook provides information for the family on the dietary management, inheritance and ovarian function. The major dietary sources o...
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ژورنال
عنوان ژورنال: Anales de Pediatría
سال: 2011
ISSN: 1695-4033
DOI: 10.1016/j.anpedi.2010.09.031