FUJIMURA, Y., KAWAMURA, M. and NARUSE, H. Simultaneous Quantitative Estimation of Galactose-1-Phosphate and Galactovve in Blood for the Diagnosis of Galactosemia. Tohoku J. exp. Med., 1982, 137 (3), 28°-295 A new microfluorometrical simultaneous assay method of galactose-l-phosphate and galactose in blood discs was devised by use of alkaline phosphatase and fl-galactose dehydrogenase. Our metho...

Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by von Ruess. The subsequent 100years has seen considerable progress in understanding the underlying genetics and biochemistry of this condition. Initial studies concentrated on increasing the understanding of the clinical manifestations of the disease. However, Leloir's discovery of the pathway of galactose...

background:  in this survey we studied the  incidence and clinical  p resentations of  galactosemia in fars province, in south  w est of iran .  galactosemia is a rare genetic metabolic disorder  of galactose.   its  metabolism can be  performed  through 3 pathways.  although  enzymes  deficiency of each of them  can lead to galactose accumulation in plasma, the term galactosemia  is specifical...

Extended Abstract Galactose is a monosaccharide present in several foods and, once introduced into the body, it is metabolised by a biochemical pathway involving three enzymes: galactokinase (GALK), galactose1-phosphate uridylyltransferase (GALT), and UDP-galactose-4'-epimerase (GALE). Hereditary deficiencies of these three enzymes in humans are related to three different forms of the genetic d...

background: galactosemia is a congenital metabolic disorder that can damage the health of a newborn. screening is an important step to prevent and treat this condition. due to increasing health care costs and limited financial resources of health systems, the most suitable economic analysis tool should be applied. the aim of this study was to analyze the cost-utility of neonatal screening progr...

UNLABELLED Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis. The diagnosis of HLH can often be difficult. It may presents in many forms such as fever of unknown origin, hepatitis, acute liver failure, and sepsis-like illness. Here w...

OBJECTIVE To analyze the presentation and predictors of outcome of children with galactosemia. METHODS Analysis of clinical, laboratory, microbiological profile and outcome of patients fulfilling the diagnostic criteria: i) clinical setting; ii) reduced erythrocyte Gal-1-PUT enzyme activity; and iii) unequivocal response to lactose-free diet. RESULTS 24 patients; median age of symptom onset...

We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and t...