Strict protein restriction can protect patients with phenylketonuria and related inborn errors of protein metabolism while creating substantial nutritional, social and psychological burden. Care is reframed around optimisation, including staged dietary liberalisation, better protein substitutes, faster home monitoring and cautious use of artificial intelligence alongside specialist dietetic judgement.

Metabolic and dietetic teams get a specialist update on adult Refsum disease. Low-phytanic-acid intake remains essential, but weight loss and inadequate carbohydrate intake can mobilise stored phytanic acid, making energy provision and weight stabilisation part of metabolic-crisis prevention.

Paediatric, metabolic and laboratory teams get a critical look at genomic newborn screening and inherited metabolic disease. A pathogenic variant is separated from a definite clinical diagnosis, with penetrance, phenotype, biochemical confirmation, childhood actionability, family burden and the capacity to support late-onset disease all shaping how results should be used.

Metabolic, paediatric and neurology teams get a specialist update on phenylketonuria, from positive newborn screening and exclusion of non-PAH causes to lifelong phenylalanine control. Genotype, residual enzyme activity, dietary therapy, sapropterin, sepiapterin, pegvaliase, maternal PKU and functional outcomes all inform long-term care.

Specialist metabolic, neurology and paediatric listeners get a rare-disease pharmacogenomics update. Rapamycin, mTOR inhibition, autophagy, oxidative stress, lysosome-mitochondria contact, ceramide metabolism and genetic-background effects are used to explain why the same therapy may help one model but harm another.

‍

Paediatric metabolic, neurology and ophthalmology teams get a specialist rare-disease update. Early newborn-screening diagnosis and standard hydroxocobalamin, betaine and folinic acid therapy reduce early mortality, but visual and neurocognitive morbidity can persist, so methylmalonic acid, total homocysteine and methionine must be interpreted alongside function, vision and development.

A specialist metabolic and paediatric update on dietary management in isolated methylmalonic acidaemia. It links intact protein, leucine-heavy medical formula, branched-chain amino acid balance, gut-derived propionate and intermittent metronidazole while emphasising specialist dietetic supervision and the limits of a small rare-disease cohort.

A specialist metabolic bone and cardiology update for rare-disease teams managing mucopolysaccharidosis type IVB. It connects low bone mineral density, non-healing fracture, teriparatide uncertainty, valve or outflow tract disease, breathlessness and multidisciplinary monitoring.

Raised glycine is a biochemical clue, not a diagnosis. Neonatal seizures, apnoea or developmental presentations need careful separation of non-ketotic hyperglycinaemia, organic acidaemias, cofactor-responsive epilepsies, valproate effects and artefact.

Progressive myopia, lens dislocation, developmental delay or young-onset thrombosis can point to classical homocystinuria. The round-up is specialist but clinically memorable: total homocysteine testing matters, newborn screening can miss cases, and lifelong biochemical control protects against thrombotic harm.