Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins initiates the intracellular transport of proteins in COPII (coat protein)-coated vesicles. Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell.

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The current practice of providing manganese supplementation to neonates on long term parenteral nutrition is leading to a high incidence of hypermanganesaemia. Magnetic resonance imaging (MRI) studies in adults on long term manganese parenteral nutrition have shown changes in TI weighted MRI images and similar findings in a neonate receiving trace element supplementation are reported here. Whole blood manganese concentration in the infant was 1740 nmoIl (or 8-3 times upper reference limit). In all neonates on long term parenteral nutrition with evidence of cholestatic liver disease so far investigated, the whole blood manganese concentrations were >360 nmolIl (reference range 73-210). Manganese supplementation to patients on long term parenteral nutrition requires reappraisal, particularly in those who develop cholestatic liver disease associated with parenteral nutrition.