Mineral intake and clinical symptoms in adult patients with Hypophosphatasia.

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Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of the Tissue-Nonspecific Alkaline Phosphatase (TNAP) entailing impaired turnover of phosphorus metabolites. Dietary mineral intake is suspected to influence clinical symptoms of HPP, but scientific evidence is missing.Cross-sectional matched-pairs study collecting comprehensive data on nutrient intake in 20 HPP patients and 20 unaffected, age- and gender-matched controls. Dietary information and clinical symptoms were documented in detail over seven consecutive days using structured diaries.Baseline data and type of energy-supplying nutrients were balanced between both groups. Median nutritional intake of phosphorus and calcium were significantly lower in HPP patients versus control, which is partially attributable to lower energy consumption in HPP patients. Differences regarding Ca/P ratio and uptake of Mg, Zn and Vitamin B6 were not statistically significant. Both high (≥ 1375 mg/d) and low intakes (


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