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L-2-HYDROXYGLUTARIC aciduria (L-2-HGA) is an autosomal recessive inborn error of metabolism. Most inborn errors of metabolism are rare, require specialised testing for diagnosis and are rapidly fatal (Sewell and others 2007), which means they are not particularly relevant to a general practitioner. However, general practitioners should have a good working knowledge of L-2-HGA for three reasons.
First, this is not a particularly rare condition; approximately 10 per cent of Staffordshire bull terriers (SBTs) in the UK and Finland carry at least one defective copy of the L-2-hydroxyglutarate dehydrogenase gene (L-2- HGDH) (Short and others 2010), that is, are heterozygotes. In a paper summarised on p 545 in this issue of Veterinary Record, Shea and others (2016) report that at least 122 SBTs with L-2-HGA (ie, homozygous recessive dogs) were identified in the UK between 2005 and 2015. That is 12 dogs a year. As a comparison, 30 to 40 vaccine-associated sarcoma were reported to the Veterinary Medicine's Directorate annually between 2003 and 2006 and, most vets are aware of this. Affected dogs typically only manifest signs severe enough to prompt presentation to a vet when the dog is in adulthood. This enzymopathy is rarely fatal, so affected dogs will visit their vet many times for routine care. Therefore many vets in general practice in the UK at some point may be presented with a …
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