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Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Positive urine reducing substances can suggest the diagnosis but the sensitivity of the test is limited and would be negative in a galactosaemia child that has not yet been exposed to galactose. Direct measurement of the enzyme galactose-1-phosphate uridyltransferase (Gal-1-PUT) in red blood cells is diagnostic. The parents of affected children will have Gal-1-PUT levels in the heterozygotes range and this is useful in diagnosing the infant who has received a recent blood transfusion. Affected children should have their eyes examined and their liver function should be assessed.
Lens and cataracts
Published in Mostafa Khalil, Omar Kouli, The Duke Elder Exam of Ophthalmology, 2019
Galactosaemia AR condition due to absence of galactose-1-phosphate uridyltransferase.Features: Infant presenting with liver dysfunction, failure to thrive and oil-droplet cataract.Investigation: Stool for reducing substances.Management: Dietary restriction of lactose and galactose.
Expanded Newborn Screening and Phenylketonuria (PKU)
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Galactosemia is identified in two ways. First, an assay can measure either the concentration of galactose or a combination of galactose and galactose-1-phosphate. More commonly, an enzyme assay for galactose-1-phosphate uridyltransferase (GALT) activity is done (8). It is the assay that is heat sensitive. Immunoassays for thyroxine (T4) and/or TSH are used to assess congenital hypothyroidism (1). A similar assay for 17-hydroxyprogesterone is used to test for congenital adrenal hyperplasia (only the 21-hydroxylase form of this disease is screened for) (9). An immunoassay can also be used for trypsinogen as a screen for cystic fibrosis.
The need for additional care in patients with classical galactosaemia
Published in Disability and Rehabilitation, 2019
Lindsey Welling, Anke Meester-Delver, Terry G. Derks, Mirian C. H. Janssen, Carla E. M. Hollak, Maaike de Vries, Annet M. Bosch
We performed a cross-sectional study, in which Capacity Profile scores for the five domains of body function were determined in a single semi-structured interview with patients and/or parents. Additional questions were asked concerning: time of start of dietary treatment and dietary compliance, current and past interventions (speech and language therapy, physiotherapy, and mental health care), educational attainment, work, living situation, and relationships. Residual galactose-1-phosphate uridyltransferase enzyme activity, and genetic analysis were retrospectively collected from the patients’ medical charts.