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A 5-year-old boy attends your paediatric clinic with a history of seizures, global developmental delay and autistic spectrum disorder. He has been extensively investigated previously but has no unifying diagnosis. Results from genetic tests are pending. After an outpatient clinic appointment, you notice that his blood results are flagged up as being abnormal. On review of these the only number outside the reference range is creatinine, which is low at 15 µmol/L. From his previous test results, you notice that he has had a persistently low creatinine level. You wonder whether he is unable to produce creatinine and if this is significant to his presentation. After a literature review you refer to the metabolic clinic.
In paediatrics the concept of ‘routine bloods’ is a misleading term as blood tests are invasive and investigations should only be requested if they will influence practice. Recent debate has highlighted a need for culture change to prevent overinvestigation.1 However, it is reasonable to suggest that in most paediatric units, there is a standard set of baseline bloods and that many children will have a range of blood tests taken as part of a standard work-up when their diagnosis is unclear. These may be taken with little expectation of abnormalities, and subtle variants from the normal range, especially those below the reference range, could be potentially overlooked, felt to be insignificant or serially checked with no clear conclusion. In contrast, a ‘metabolic screen’ involving a wide range of investigations is considered in specific patients to seek out inborn errors of metabolism (IEM) and increased weight may be placed on more specialised tests. Here we discuss markers of IEM that may be hidden in the routine test results pile.
It is worth noting that the most common tests in each unit will vary slightly and the components …
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