Abstract
Children with inborn errors of intermediary metabolism (IEiM) must follow special diets that restrict their intake of essential nutrients and may compromise normal growth and development. We evaluated body composition, bone mineral density, physical activity, and food intake in IEiM patients undergoing dietary treatment. IEiM patients (n = 99) aged 5–19 years and healthy age- and sex-matched controls (n = 98) were recruited and underwent dual-energy X-ray absorptiometry to evaluate anthropometric characteristics and body composition. Data on food intake and physical activity were also collected using validated questionnaires. The height z-score was significantly lower in IEiM patients than controls (−0.28 vs. 0.15; p = 0.008), particularly in those with carbohydrate and amino acid metabolism disorders. Significant differences in adiposity were observed between patients and controls for the waist circumference z-score (−0.08 vs. −0.58; p = 0.005), but not the body mass index z-score (0.56 vs. 0.42; p = 0.279). IEiM patients had a significantly lower total bone mineral density (BMD) than controls (0.89 vs. 1.6; p = 0.001) and a higher risk of osteopenia (z-score < −2, 33.3% vs. 20.4%) and osteoporosis (z-score < −2.5, 7.1% vs. 0%), but none presented fractures. There was a significant positive correlation between natural protein intake and BMD. Our results indicate that patients with IEiM undergoing dietary treatment, especially those with amino acid and carbohydrate metabolism disorders, present alterations in body composition, including a reduced height, a tendency towards overweight and obesity, and a reduced BMD.
Highlights
IntroductionIntermediary inborn errors of intermediary metabolism (IEiM) are caused by genetic defects in enzymes or cofactors involved in the complex pathways by which amino acids, carbohydrates, and fatty acids are metabolized [1]
intermediary metabolism (IEiM) patients based on evaluation of anthropometric and body composition parameters; (2) determine the risk of osteopenia and/or osteoporosis based on dual-energy X-ray absorptiometry (DEXA) bone mineral density measurement in different body zones; (3) evaluate food intake and physical activity using validated questionnaires
The study population consisted of 197 individuals (99 IEiM patients and 98 age- and sex-matched controls)
Summary
Intermediary inborn errors of intermediary metabolism (IEiM) are caused by genetic defects in enzymes or cofactors involved in the complex pathways by which amino acids, carbohydrates, and fatty acids are metabolized [1]. In these conditions, abnormal accumulations of substrates or deficits in the product can be detected using specific biochemical markers. During periods of metabolic stress (e.g., intercurrent illness), acute changes in diet are regularly required to prevent metabolic decompensation, in disorders that result in severe intoxication This can result in exaggeration of the original diet, in patients with AA, leading to periods of minimal protein intake and high energy intake and, nutritional imbalance
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