Letter to the Editor: ‘Rare but relevant: Genetic liver disease in the general medical setting’

I read with interest the article by Allouni and Ala 1 on genetic liver disease in general medical settings.I strongly support their conclusion that, although individually rare, these conditions are clinically significant and frequently under-recognised due to their non-specific presentations.Early identification can redirect clinical management, facilitate targeted treatment and enable cascade testing, particularly as genomic services expand across the NHS.From the perspective of inherited metabolic disorders (IMDs), the diagnostic framework outlined in the article is highly relevant.While Wilson disease, haemochromatosis and alpha-1 antitrypsin deficiency are well-established examples, a broader spectrum of IMDs is increasingly recognised in adult hepatology.These include lysosomal acid lipase deficiency (LAL-D), familial hypobetalipoproteinaemia, urea cycle disorders, mitochondrial hepatopathies and hepatic glycogen storage disorders, many of which are now considered treatable.Presentations are often subtle, episodic or multisystemic, and may be mislabelled as