background: the aim of the study was to research concerning the epidemiology of newborns' galactosemia during 2007-2008 to find out whether screening was necessary for iranian newborns or not and also what the symptoms of this disease before or after diet were. methods: the data were collected from 24000 newborn babies from fars province, southern iran. the enzymatic calori­metric test was done...

a 34 day-old girl infant was admitted for poor feeding and cholestasis. she had a bulging fontanelle, with no evidence of intracranial infection or hemorrhage. investigations demonstrated that she had galactosemia. computed tomographic scans demonstrated the presence of diffuse cerebral edema. after treatment the edema resolved.

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...

Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1-(13)C-galactose) allows the determination of galactose metabolism in a practical manner. We aimed to assess the level of galactose oxidation in ...

Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...

Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas classic galactosemia has been hypothesized to result from GALT misfolding, a thorou...