Five years of screening for galactosaemia in South Africa: Pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country.

Background: The objective of the study was to investigate the effectiveness of screening for hereditary galactosaemia with Benedict's test and thin layer chromatography (TLC) in a tertiary laboratory from a developing country.

Methods: We retrospectively analysed the results of tests done in suspected galactosaemia patients including Benedict's test, thin layer chromatography, GALT activity and DNA analysis.

Results: 878 paediatric patients were screened with Benedict's test; the age range was 5 days to 19 years.

Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.

Background: Chronic liver disease with conjugated hyperbilirubinaemia and failure to thrive can have multifactorial aetiologies. Investigations can be complex and difficult especially when obscured by a viral infection affecting liver function.

Methods: A 5 month old male infant was referred for investigation of chronic liver disease and a history of jaundice with multiple febrile episodes.

Case Report: A Toddler With Anasarca Caused by Congenital Nephrotic Syndrome.

Congenital nephrotic syndrome is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is the result of massive protein loss in the urine with associated compensatory mechanisms. Here we present a clinical case of a female toddler with a history of anasarca (severe generalised edema) from birth and who presents with the classical biochemical laboratory findings of nephrotic syndrome, together with the more pronounced features that arise from protein loss including abnormal thyroid function testing and a marked hypercholesterolaemia.

Demand management by electronic gatekeeping of test requests does not influence requesting behaviour or save costs dramatically.

Background Healthcare budgets face constraints, and laboratories have developed strategies to adapt to the concomitant increase in workload. Some of the tests (7.4%) may be attributed to unnecessary repeat testing.