Publications by authors named "A M Tummolo"
Article Synopsis
- The study examines long-term growth trends in children with Phenylketonuria (PKU) compared to healthy peers, focusing on their body mass index (BMI) and weight-for-length ratio.
- Results show that PKU children's median BMI z-scores were within the normal range, similar to controls, but their weight distributions were broader, particularly peaking around 3 years old.
- Despite comparable rates of overweight between the two groups, the higher prevalence of overweight in the general population raises concerns about the nutritional risks for PKU patients.
Maternal phenylketonuria (mPKU) is a pathologic condition occurring in the fetus of a mother with PKU that is caused by prolonged elevated intrauterine blood phenylalanine (Phe) levels, which can lead to congenital abnormalities and mental retardation of newborns. Management of PKU during pregnancy can be challenging as protein substitutes may exacerbate nausea, vomiting, and gastrointestinal symptoms. To report the successful management of four PKU pregnant women.
View Article and Find Full Text PDFBackground: To achieve a normal nutritional status, patients suffering from phenylketonuria (PKU) are typically prescribed amino acid (AA) supplements with low or no phenylalanine (Phe) content. Studies evaluating patient preferences regarding the intake modalities of AA supplements are limited. This study aimed to collect real-world data regarding prescription adherence and intake modalities of AA supplements reported by PKU patients while monitoring metabolic control.
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- * Due to the rarity of UCDs, clinical research is challenging and evidence for treatment guidelines is limited, leading experts in Italy to develop consensus-based management strategies for mild UCDs.
- * Recommended management includes expanded newborn screening, early initiation of therapy (like low-protein diets and nitrogen scavengers), and long-term follow-up that focuses on growth, nutrition, and cognitive development.
Many inherited metabolic disorders (IMDs), including disorders of amino acid, fatty acid, and carbohydrate metabolism, are treated with a dietary reduction or exclusion of certain macronutrients, putting one at risk of a reduced intake of micronutrients. In this review, we aim to provide available evidence on the most common micronutrient deficits related to specific dietary approaches and on the management of their deficiency, in the meanwhile discussing the main critical points of each nutritional supplementation. The emerging concepts are that a great heterogeneity in clinical practice exists, as well as no univocal evidence on the most common micronutrient abnormalities.
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