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首页> 外文期刊>Molecular Genetics and Metabolism Reports >Sex differences in body composition and bone mineral density in phenylketonuria: A cross-sectional study
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Sex differences in body composition and bone mineral density in phenylketonuria: A cross-sectional study

机译：苯丙酮尿症患者身体成分和骨矿物质密度的性别差异：一项横断面研究

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Background Low bone mineral density (BMD) and subsequent skeletal fragility have emerged as a long-term complication of phenylketonuria (PKU). Objective To determine if there are differences in BMD and body composition between male and female participants with PKU. Methods From our randomized, crossover trial [1] of participants with early-treated PKU who consumed a low-phenylalanine (Phe) diet combined with amino acid medical foods (AA-MF) or glycomacropeptide medical foods (GMP-MF), a subset of 15 participants (6 males, 9 females, aged 15–50 y, 8 classical and 7 variant PKU) completed one dual energy X-ray absorptiometry (DXA) scan and 3-day food records after each dietary treatment. Participants reported lifelong compliance with AA-MF. In a crossover design, 8 participants (4 males, 4 females, aged 16–35 y) provided a 24-h urine collection after consuming AA-MF or GMP-MF for 1–3 weeks each. Results Male participants had significantly lower mean total body BMD Z-scores (means ± SE, males = ? 0.9 ± 0.4; females, 0.2 ± 0.3; p = 0.01) and tended to have lower mean L1–4 spine and total femur BMD Z-scores compared to female participants. Only 50% percent of male participants had total body BMD Z-scores above ? 1.0 compared to 100% of females ( p = 0.06). Total femur Z-scores were negatively correlated with intake of AA-MF ( r = ? 0.58; p = 0.048). Males tended to consume more grams of protein equivalents per day from AA-MF (means ± SE, males: 67 ± 6 g, females: 52 ± 4 g; p = 0.057). Males and females demonstrated similar urinary excretion of renal net acid, magnesium and sulfate; males showed a trend for higher urinary calcium excretion compared to females (means ± SE, males: 339 ± 75 mg/d, females: 228 ± 69 mg/d; p = 0.13). Females had a greater percentage of total fat mass compared to males (means ± SE, males: 24.5 ± 4.8%, females: 36.5 ± 2.5%; p = 0.047). Mean appendicular lean mass index was similar between males and females. Male participants had low-normal lean mass based on the appendicular lean mass index. Conclusions Males with PKU have lower BMD compared with females with PKU that may be related to higher intake of AA-MF and greater calcium excretion. The trial was registered at www.clinicaltrials.gov as NCT01428258 .
机译：背景低骨矿物质密度（BMD）和随后的骨骼脆弱性已成为苯丙酮尿症（PKU）的长期并发症。目的确定患有PKU的男性和女性参与者的BMD和身体组成是否存在差异。方法从我们的一项随机，交叉试验[1]中，接受低剂量的苯丙氨酸（Phe）饮食与氨基酸医疗食品（AA-MF）或糖巨肽医疗食品（GMP-MF）结合使用的早期PKU参与者15位参与者（6位男性，9位女性，年龄15至50岁，8位经典和7位PKU）在每次饮食治疗后完成了一次双能X线骨密度仪（DXA）扫描和3天的食物记录。参与者报告终身遵守AA-MF。在交叉设计中，有8位参与者（4位男性，4位女性，年龄16-35岁）在每次服用AA-MF或GMP-MF 1-3周后提供了24小时尿液收集。结果男性参与者的平均身体BMD Z分数显着较低（平均值±SE，男性=±0.9±0.4;女性，0.2±0.3; p = 0.01），并且倾向于具有较低的L1-4脊柱和总股骨BM​​D Z与女性参与者相比的得分。男性参与者中只有50％的人体BMD Z分数高于？与100％的女性相比为1.0（p = 0.06）。总股骨Z值与AA-MF摄入量呈负相关（r = 0.58; p = 0.048）。男性倾向于每天从AA-MF中消耗更多克蛋白质当量（平均值±SE，男性：67±6 g，女性：52±4 g; p = 0.057）。男性和女性表现出相似的尿排泄肾净酸，镁和硫酸盐;男性比女性表现出更高的尿钙排泄趋势（平均值±SE，男性：339±75 mg / d，女性：228±69 mg / d; p = 0.13）。与男性相比，女性的总脂肪量百分比更高（平均值±标准误差，男性：24.5±4.8％，女性：36.5±2.5％; p = 0.047）。男性和女性的平均阑尾瘦体重指数相似。男性参与者的阑尾瘦体重指数为低正常瘦体重。结论男性PKU患者的BMD低于女性PKU患者，这可能与AA-MF摄入量增加和钙排泄量增加有关。该试验已在www.clinicaltrials.gov上注册为NCT01428258。

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