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Metabolic diseases

When ‘Liver Enzymes’ Are Not Hepatic: Late-Onset Pompe Disease

Elevated liver function tests are commonly attributed to hepatic disease but may reflect extrahepatic pathology. We describe the case of an 18-year-old athletic woman with a 2-year history of elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels, initially investigated extensively for hepatic causes. Despite normal liver imaging and biopsy, ongoing abnormalities prompted metabolic evaluation, leading to the diagnosis of late-onset Pompe disease. This case highlights the diagnostic challenges of rare metabolic myopathies, the importance of recognising muscle-derived aminotransferase elevation and the need for broad diagnostic consideration when standard investigations are unrevealing.

Shauna Madigan, Georgina England, Wayne Rankin

Statistics Narrative review 10 May 2026 Open Access

Fatty Liver Disease in Australia: A Narrative Review on the Epidemiology, Natural History, Prognostication and Management in People With Metabolic Dysfunction

Metabolic (dysfunction)-associated fatty liver disease (MAFLD) or metabolic (dysfunction)-associated steatotic liver disease (MASLD) is the most common and fastest growing cause of chronic liver disease worldwide. There has been a substantial increase in the epidemiological research regarding MASLD/MAFLD originating from Australia since 2020. This narrative review summarises these pivotal epidemiological studies investigating the disease prevalence, natural history, prognostication and management of this condition. The Australian literature demonstrates the prevalence to be between one-third and two-fifths of adults affected, depending on nomenclature, with a heightened risk of cardiovascular disease irrespective of terminology. Current local data support guideline-based disease staging with non-invasive tests of fibrosis and the management continues to centre on diet and lifestyle interventions, with directed therapy on the horizon.

Karl Vaz, Daniel Clayton-Chubb, William W. Kemp, Stuart K. Roberts, Ammar Majeed

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Women's health Research 16 November 2025 Free

The early implementation phase of the Omega‐3 Test‐and‐Treat Program for reducing the risk of preterm birth, South Australia, 2021–22: an implementation evaluation study

The program could be integrated into routine antenatal care to reduce the risk of preterm birth in Australia

Karen P Best · Celine Northcott · Lucy A Simmonds · Philippa Middleton · Lisa N Yelland · Vanessa Moffa · Khoa Lam · Penelope Coates · Cornelia Späth · Carol WK Siu · Karen Glover · Rhiannon Smith · Robert Gibson · Maria Makrides

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General medicine Consensus statement 1 September 2025 Open Access

Assessment of metabolic dysfunction‐associated fatty liver disease in primary care: a consensus statement summary

In recognition of the increasing burden of metabolic dysfunction-associated fatty liver disease (MAFLD) in Australia, and the lack of clear guidelines for general practitioners, this consensus statement summary presents 21 recommendations on the assessment and monitoring of MAFLD in adult patients in primary care

Leon A Adams · William W Kemp · Kate R Muller · Elizabeth E Powell · Stuart K Roberts · Luis Calzadilla Bertot · Stephanie Best · Gary Deed · Jon D Emery · Samantha L Hocking · Graham R Jones · John S Lubel · Sinead Sheils · Stephen M Twigg · Gerald F Watts · Jacob George

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Indigenous health Research 3 March 2025 Open Access

Improving cardiometabolic risk factors in Aboriginal and Torres Strait Islander people in northeast Arnhem Land: single arm trial of a co‐designed dietary and lifestyle program

Culturally acceptable strategies for improving risk factors could reduce cardiometabolic disease in remote Aboriginal and Torres Strait Islander communities

Hasthi UW Dissanayake · George Gurruwiwi · J Dhurrkay · Josh C Tynan · Sabine Braat · Benjamin Harrap · Tim Trudgen · Sarah Hanieh · Bronwyn Clark · Michaela Spencer · Michael Christie · Emma Tonkin · Emily Armstrong · Leonard C Harrison · John M Wentworth · Julie K Brimblecombe · Beverley‐Ann Biggs

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The role of GLP‐1 receptor agonists in the management of obesity: risks and opportunities for the Australian health care system

The use of glucagon-like peptide-1 receptor agonists in the treatment of obesity has the potential to impact one-third of Australians. This warrants due consideration and planning for future funding models, systems and models of care to ensure equitable access

Christopher Kanellis · Kyle Williams · Darcy Q Holt · Jennifer Wong · Rachel David · Ravi Carothers · Suong Le

Toxicology Letters 17 April 2023 Free

Elevated vitamin B6 whole blood levels in Australian patients

To the Editor: Paradoxically, both vitamin B6 deficiency and excess are associated with peripheral neuropathy. Increasingly, patients are presenting with peripheral neuropathy associated with elevated vitamin B6 whole blood levels, as previously presented by our laboratory.1 With a societal push towards wellness, there has been a greater uptake of over‐the‐counter vitamins in recent years. Magnesium is taken by patients for muscle, nerve and digestive issues, as well as for stress, anxiety and overall wellness. For some of these listed indications, the evidence is dubious. Vitamin B6 (as pyridoxine hydrochloride) is common among magnesium supplements based on the theory that the cellular uptake of magnesium is enhanced.2 These supplements are readily available in pharmacies, supermarkets and online, and contain up to 60mg of vitamin B6 per tablet. When purchasing magnesium supplements, patients may be unaware that they are also getting vitamin B6 and the quantity included could be hazardous to health. A patient taking two magnesium tablets per day could be unintentionally consuming 120mg of vitamin B6, now considered a large dose. This is far greater than the recommended dietary intake of vitamin B6 for adults in Australia and New Zealand of 1.3–2.0mg/day with a maximum of 50mg/day.3 The pharmacokinetics of pyridoxine hydrochloride are complex. Despite being water soluble, it has a half‐life of up to 30 days. Repetitive small doses taken over a period of months can accumulate, resulting in high blood concentrations. Vitamin B6 is associated with peripheral neuropathy when whole blood levels exceed 250nmol/L.4 Our laboratory recently presented a study showing that about 39% of our patients had elevated vitamin B6 whole blood levels (>190mol/L, the upper limit of our reference interval). The study included data from 88655 samples.1 A recent regulatory change from the Therapeutic Goods Administration mandated that products containing vitamin B6 in daily doses above 10mg now require a label warning.5 This previously applied to products containing over 50mg per daily dose. The Therapeutic Goods Administration has also reduced the maximum permitted daily dose from 200mg to 100mg for adults. It also noted cases where peripheral neuropathy developed in patients taking less than 50mg daily.5 This change applies to products produced after 1 March 2023 and therefore does not apply to products purchased before this date. In addition to being present in magnesium supplements, vitamin B6 (as pyridoxine hydrochloride) is contained in many multivitamins and energy drinks. Community awareness is key.

Gemma M Daley · David Kanowski · Lee Price

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