UOC of Endocrinology and Diabetology, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy.
Research Unit for Predictive and Preventive Medicine, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy.
Nutrients. 2024 Oct 1;16(19):3341. doi: 10.3390/nu16193341.
: Adrenoleukodystrophy (X-ALD) is a metabolic disorder caused by dysfunctional peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFAs). A VLCFA-restricted Mediterranean diet has been proposed for patients and carriers to reduce daily VLCFA intake. : We retrospectively evaluated plasma VLCFAs in a cohort of 36 patients and 20 carriers at baseline and after 1 year of restricted diet. : At T1, compliant adult patients had significantly lower C26:0 levels [1.7 (1.2) vs. 2.5 µmol/L (1.7), < 0.05], C26:0/C22:0 ratio [0.04 (0.02) vs. 0.06 (0.03), < 0.05], and triglycerides [93 (56.5) vs. 128 mg/dL (109.5), < 0.05] than non-compliant ones. C26:0 [2.4 (1.7) vs. 1.7 (1.2) µmol/L, < 0.05], the C26:0/C22:0 ratio [0.06 (0.04) vs. 0.04 (0.02), < 0.05], and cholesterol [173.5 (68.3) mg/dL vs. 157 (54) mg/dL, < 0.05] were significantly reduced in compliant adult patients at T1 vs. baseline. As for carriers, the C26:0/C22:0 ratio was lower [0.02 (0.01) vs. 0.04 (0.009), < 0.05] at T1 in compliant carriers, as compared to non-compliant ones. The C26:0/C22:0 [0.03 (0.02) vs. 0.02 (0.01) < 0.05] and C24:0/C22:0 [1.0 (0.2) vs. 0.9 (0.3), < 0.05] ratios were significantly decreased at T1 vs. T0. A VLCFA-restricted diet is effective in reducing plasma VLCFA levels and their ratios and must be strongly encouraged as support to therapy.
肾上腺脑白质营养不良（X-ALD）是一种由过氧化物酶体中极长链脂肪酸（VLCFAs）β-氧化功能障碍引起的代谢紊乱。有人提出限制地中海饮食中的 VLCFA 摄入量，以减少患者和携带者的每日 VLCFA 摄入量。
我们回顾性评估了 36 名患者和 20 名携带者在限制饮食前（T0）和 1 年后（T1）的血浆 VLCFA 水平。
在 T1，依从性成年患者的 C26:0 水平[1.7（1.2）比 2.5 μmol/L（1.7），<0.05]、C26:0/C22:0 比值[0.04（0.02）比 0.06（0.03），<0.05]和甘油三酯[93（56.5）比 128 mg/dL（109.5），<0.05]明显低于不依从者。C26:0[2.4（1.7）比 1.7（1.2）μmol/L，<0.05]、C26:0/C22:0 比值[0.06（0.04）比 0.04（0.02），<0.05]和胆固醇[173.5（68.3）mg/dL 比 157（54）mg/dL，<0.05]在依从性成年患者 T1 时均显著低于基线。对于携带者，与不依从者相比，依从性携带者 T1 时 C26:0/C22:0 比值[0.02（0.01）比 0.04（0.009），<0.05]较低。C26:0/C22:0[0.03（0.02）比 0.02（0.01），<0.05]和 C24:0/C22:0[1.0（0.2）比 0.9（0.3），<0.05]比值在 T1 时均显著低于 T0。限制 VLCFA 饮食可有效降低血浆 VLCFA 水平及其比值，必须强烈鼓励作为治疗的辅助手段。
