Nutritional Management of Patients with Inborn Errors of Metabolism.

Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...

Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.

Background And Objective: Prevalence studies of acid sphingomyelinase deficiency (ASMD) are scarce and different in Spain. The objective of the present study was to determine the estimated prevalence of patients diagnosed with ASMD (types A/B and B) in Spain.

Material And Methods: PREVASMD was a descriptive, multicenter, and ecological study involving 21 physicians from different specialties (mainly Internal Medicine, Paediatrics and Hematology), of different autonomous communities, with experience in ASMD management.

New variants expand the neurological phenotype of COQ7 deficiency.

The protein encoded by COQ7 is required for CoQ synthesis in humans, hydroxylating 3-demethoxyubiquinol (DMQ) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ primary deficiency caused by five mutations in COQ7, three of which have not yet been described, inducing mitochondrial dysfunction in all patients.

Gas Sensor Based on Lossy Mode Resonances by Means of Thin Graphene Oxide Films Fabricated onto Planar Coverslips.

The use of planar waveguides has recently shown great success in the field of optical sensors based on the Lossy Mode Resonance (LMR) phenomenon. The properties of Graphene Oxide (GO) have been widely exploited in various sectors of science and technology, with promising results for gas sensing applications. This work combines both, the LMR-based sensing technology on planar waveguides and the use of a GO thin film as a sensitive coating, to monitor ethanol, water, and acetone.

Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.

In galactosaemia, a strict galactose-free diet is necessary to prevent or resolve acute symptoms in infants. However, because the body produces up to 10 times more galactose than is found in a galactose-restricted diet, excessively restrictive diets should be avoided in children and adults to prevent nutritional deficiencies. Since cheese is a nutritional source of the calcium necessary for bone health, the latest international guidelines on the management of classical galactosaemia (2017) allow the consumption of cured cheeses with less than 25 mg of galactose/100 g and recommend that each country verifies the adequacy of the cheeses, since most mature cheeses do not always have a lower galactose content.