title: The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.
abstract: Patients having inborn errors of intermediary metabolism (IEMs) may have element deficiencies related to dietary treatment. Our objective was to study several elements [cobalt (Co), copper (Cu), zinc (Zn), selenium (Se), manganese (Mn), molybdenum (Mo) and magnesium (Mg)] in patients with IEMs with and without dietary treatment and to compare these results with those established in a healthy paediatric population. We studied 72 patients with IEMs (age range 2 months-44 years; median 10.5 years), with and without protein-restricted dietary treatment. Control values were established in 92 subjects (age range 1 day-42 years; median 6.5 years). Dietary treatment consisted of a natural protein-restricted diet supplemented with a special formula, depending on the specific metabolic defect. Samples were analysed with an Agilent 7500ce-ICP mass spectrometer. Significant differences were observed when we compared patients under dietary treatment and control values for Se and Co (P < 0.0001). No differences were observed for the other elements when the different groups were compared, except for Co (IEM patients without dietary treatment vs control group; P = 0.003). For Se and cobalamin, the daily intake of our patients (Se 48 ± 16 µg/day; cobalamin 3.5 µg/day) was slightly higher than the recommended daily averages (RDAs) (40 µg/day and 1.8 µg/day, respectively). We concluded that IEM patients under dietary treatment showed significantly lower selenium values in spite of correct supplementation, reinforcing the idea that these patients should be regularly monitored, at least for this element. Further investigations seem advisable about Se and Co availability in special diets.
authors.affiliation: Inborn Errors of Metabolism Unit, Clinical Biochemistry, Gastroenterology and Nutrition Departments, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Mireia
authors.initials: M
authors.lastname: Tondo
authors.forename: Nilo
authors.initials: N
authors.lastname: Lambruschini
authors.forename: Lilianne
authors.initials: L
authors.lastname: Gomez-Lopez
authors.forename: Alejandra
authors.initials: A
authors.lastname: Gutierrez
authors.forename: Juan
authors.initials: J
authors.lastname: Moreno
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Maria A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D019587:Dietary Supplements; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis* / Q000178:diet therapy; D011237:Predictive Value of Tests; D014131:Trace Elements / Q000097:blood*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D015415:Biomarkers; D014131:Trace Elements