Maines Evelina, Gugelmo Giorgia, Vitturi Nicola, Dianin Alice, Rubert Laura, Piccoli Giovanni, Soffiati Massimo, Cauvin Vittoria, Franceschi Roberto
Division of Pediatrics, Santa Chiara General Hospital, APSS Trento, 38122 Trento, Italy.
Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, 35128 Padova, Italy.
Children (Basel). 2025 Mar 17;12(3):374. doi: 10.3390/children12030374.
: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an inborn error affecting fatty acid β-oxidation (FAO). Differently than other FAO deficiencies, LCHADD patients may develop progressive retinopathy and peripheral neuropathy. The pathogenesis of retinopathy is not completely understood, and the role of dietary interventions in preventing the development of retinopathy remains uncertain. We examined the literature to assess the impact of the dietary management of LCHADD patients on retinopathy prevention. : Our systematic search included studies published in the last 20 years according to PRISMA guidelines. The aims of the review were to analyze the correlation between retinopathy and the following: (1) age at first metabolic decompensation and/or at the start of the dietary treatment, (2) chronic dietary treatment, (3) emergency regimens, (4) other nutritional supplements. The protocol was registered in PROSPERO, and evidence was assessed using the GRADE system. : Seven full papers were identified according to search criteria, with only four including meaningful data. Early presentation of the disease, acute neonatal symptoms, and a suboptimal chronic treatment control were associated with more aggressive retinopathy and a poorer sight outcome. The number of metabolic decompensations and/or hospitalizations were also positively correlated with vision loss. Chronic fat modulation in the diet had less impact than emergency treatments. The role of other nutritional supplements was not well defined. : Newborn screening may improve retinal outcomes. Nevertheless, early treatment adopting the current LCHADD therapeutic regimen can often only delay the onset of retinopathy. Clearly, our current treatment strategies are not adequate and retina-specific treatments are needed. The optimal composition of the diet, the role of fasting limitation, and the benefits of some nutritional supplements deserve further investigations.
长链3-羟酰基辅酶A脱氢酶缺乏症（LCHADD）是一种影响脂肪酸β-氧化（FAO）的先天性代谢缺陷病。与其他FAO缺乏症不同，LCHADD患者可能会发展为进行性视网膜病变和周围神经病变。视网膜病变的发病机制尚未完全明确，饮食干预在预防视网膜病变发展中的作用仍不确定。我们检索了相关文献，以评估LCHADD患者的饮食管理对预防视网膜病变的影响。
我们的系统检索纳入了过去20年根据PRISMA指南发表的研究。该综述的目的是分析视网膜病变与以下因素之间的相关性：（1）首次代谢失代偿和/或开始饮食治疗时的年龄，（2）长期饮食治疗，（3）应急方案，（4）其他营养补充剂。该方案已在PROSPERO注册，并使用GRADE系统评估证据。
根据检索标准确定了7篇全文，其中只有4篇包含有意义的数据。疾病的早期表现、急性新生儿症状以及慢性治疗控制不佳与更严重的视网膜病变和较差的视力结果相关。代谢失代偿和/或住院的次数也与视力丧失呈正相关。饮食中的长期脂肪调节比应急治疗的影响小。其他营养补充剂的作用尚不明确。
新生儿筛查可能会改善视网膜结局。然而，采用目前LCHADD治疗方案的早期治疗往往只能延迟视网膜病变的发作。显然，我们目前的治疗策略并不充分，需要针对视网膜的特异性治疗。饮食的最佳组成、禁食限制的作用以及一些营养补充剂的益处值得进一步研究。
