galactosaemia


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Related to galactosaemia: galactosemia, Classic Galactosemia

galactosaemia

or

galactosemia

n
a genetic disorder which affects a person's ability to metabolize galactose, identifiable by the presence of galactose in the blood
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References in periodicals archive ?
But on August 14 Arianna-Mai lost her life after a five-day battle with liver failure, following a diagnosis of galactosaemia, which ultimately resulted in her developing sepsis.
Nonetheless, he added that children with galactosaemia stand a risk of developing cataract.
Galactosaemia and MPV17-related hepatocerebral mitochondrial DNA depletion syndrome were considered, but the common c.404C >T (p.5135L) and c.C106T (P.Q36X) mutations in the galactose-1-phosphate uridyltransferase (GALT) and MPV17 genes, respectively, were not detected.
Boot-Handford, "Effects of long-term diabetes and galactosaemia upon lens and retinal mRNA levels in the rat," Experimental Eye Research, vol.
Tacke, "Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and/or G1391A mutations," Acta Ophthalmologica, vol.
Coss et al., "Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis," European Journal of Human Genetics, vol.
Long-term prognosis galactosaemia: results of a survey of 350 cases.
Long-term prognosis in galactosaemia result of a survey of 350 cases.
Infections like varicella, herpes simplex, toxoplasmosis, rubella and syphilis (TORCH) are considered some of the causes behind CC.9,10 Congenital rubella syndrome (CRS) is still a major problem in developing countries and CC was found in 90% of seropositive patients.11 Babies having galactosaemia, a metabolic disorder found associated with CC, have lack of clarity in the middle portion of the eye which can be viewed with retroillumination.
For example, an overwhelming accumulation of gal-1-P potentially interferes with many important enzymes and is considered to be a major pathogenic agent for the organ (e.g., liver, brain and ovary)-specific toxicity exhibited by congenital GALT-deficiency (Type I) galactosaemia patients (Lai et al., 2009).
Classical galactosaemia in Chinese: a case report and review of disease incidence.
Furthermore, from observations made on other inherited metabolic disorders, such as type 1 glutaric aciduria, galactosaemia and cystinosis, [16-18] it is becoming increasingly evident that the mutations commonly reported do not appear to reflect the disease-causing mutations among black African populations.