Classical galactosemia (CG) is a disorder of galactose metabolism which results from deficiency of the enzyme galactose‐1‐phosphate uridylyl transferase (GALT). Treatment consists of immediately eliminating galactose from the diet in the new‐born and lifelong restriction of dietary galactose. The inclusion of a wider variety of foods for people with CG may provide many benefits, including improved nutritional adequacy and quality of life. Galactose plays an important role in glycosylation of glycoproteins and glycolipids. Moderate liberalization of galactose restriction has been shown to improve immunoglobulin G (IgG) glycosylation for some individuals with CG. Moreover, recent outcome research suggests that strict restriction of nondairy galactose may have more unfavorable outcomes than moderate liberalization in CG patients. In the current work, based on patient feedback, we have analyzed the lactose and galactose content of different foods available in Ireland. These include a range of cheeses, yogurts, pizzas, soups, biscuits, cakes, pastries, crackers, mayonnaises, salad creams, fat spreads, crisps, corn chips, salamis, and gravies. This work provides information to support the development of a practical food‐based approach to facilitate analysis of dietary galactose intake and to possibly increase overall variety of food choices for people with CG.

Background: HyperCKemia, defined as elevated serum creatine kinase, commonly reflects muscle injury but may also indicate underlying metabolic disease. Metabolic aetiologies, including glycogen storage disorders, fatty acid oxidation defects, mitochondrial cytopathies, and purine metabolism disorders, are clinically important owing to diagnostic complexity, therapeutic implications, and potential reversibility. Objective: To summarise current evidence on metabolic causes of hyperCKemia in adults, with emphasis on disorders of carbohydrate, lipid, and purine metabolism and mitochondrial disease. Methods: Semi-systematic narrative review of pathophysiology, clinical features, diagnostic approaches, and management of metabolic disorders associated with hyperCKemia. Results: Metabolic myopathies often present with nonspecific or exercise-related symptoms, with creatine kinase levels ranging from mild-to-severe elevations. Conditions such as McArdle disease, carnitine palmitoyltransferase II deficiency, and mitochondrial cytopathies demonstrate characteristic metabolic vulnerabilities leading to episodic or persistent hyperCKemia. Medications, including statins and antiretrovirals, may precipitate symptoms in predisposed individuals. Diagnosis requires a structured, multidisciplinary approach incorporating biochemical testing, genetic analysis, functional studies, and muscle biopsy. Many causes are amenable to targeted therapy, including dietary modification, endocrine correction, and medication withdrawal. Conclusion: Metabolic causes of hyperCKemia are under-recognised but clinically significant. Early identification allows targeted treatment and prevention of complications.

Background/ Objectives: Hyperlactatemia is a nonspecific biochemical phenotype with a broad acquired and inherited differential, complicating genomic interpretation. We aimed to identify and curate genes associated with inherited metabolic hyperlactatemia and develop an evidence-tiered virtual diagnostic panel. Methods: NCBI Gene was searched on 8 August 2026 using four lactate-related terms. Human records were deduplicated by GeneID and curated for gene–disease validity, inheritance, mechanism, and lactate-specific clinical relevance. Targeted review of ClinGen, OMIM, GenCC, PanelApp, GeneReviews, and primary literature identified established causes missed by keyword retrieval. Results: The searches yielded 802 raw records. After removal of duplicate export blocks, 401 human query records resolved to 240 unique genes. Submission-version reconciliation identified 34 search-derived genes in the 85-gene active panel, while 206 search-derived genes were not retained and remain available for audit and future reanalysis. Targeted review contributed 51 additional active genes. The final panel comprised 40 Tier 1, 26 Tier 2, and 19 Tier 3 genes. Conclusions: Phenotype-keyword retrieval showed low specificity and incomplete sensitivity. Integrating gene–disease validity with lactate-specific relevance provides a transparent, updateable framework for phenotype-informed genomic prioritization.

Background and Aims: Mitochondrial trifunctional protein deficiency (MTPD) is an inherited disorder of fatty acid β‐oxidation caused by mutations in HADHA or HADHB genes. It typically presents with cardiomyopathy or hepatic failure in early childhood; however, it may rarely present in adulthood with the neuromyopathic form.Methods: We describe a patient with MTPD with isolated neuropathy mimicking Charcot–Marie–Tooth disease (CMT) as the first and only presenting symptom. Clinical and electrophysiological examinations were conducted, including nerve conduction studies, needle electromyography, muscle and nerve biopsies. The diagnosis was confirmed with genetic testing and enzymatic analysis of cultured skin fibroblasts.Results: We report a 40‐year‐old man diagnosed with axonal CMT2 in childhood. He had pes cavus and hammer toes, mild distal lower limb weakness, and loss of vibration sense with areflexia. He later developed fatigability, improved exercise tolerance with alcohol and an episode of chest infection causing neurological decompensation without evidence of rhabdomyolysis. Neurophysiology showed non‐length‐dependent axonal sensorimotor neuropathy without myopathic features. Genetic testing confirmed that he was compound heterozygous for two HADHA variants, one of them novel, and enzymatic analysis of cultured skin fibroblasts confirmed MTPD.Interpretation: We report a very rare isolated neuropathic phenotype of MTPD and confirm the pathogenicity of the novel variant c.1003G>A, p.(Glu335Lys). This case also highlights the need for HADHA and HADHB to be included in neuropathy gene panels as MTPD may present as CMT. Given that dietary management may prevent some complications of MTPD, achieving a diagnosis early is important.