Department of Pediatrics Section of Clinical Genetics and Metabolism, Aurora, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Nutrients. 2020 Feb 13;12(2):473. doi: 10.3390/nu12020473.
Methylmalonic acidemia (MMA) is an autosomal recessive disorder treated with precursor-free medical food while limiting natural protein. This retrospective chart review was to determine if there was a relationship between medical food, valine (VAL) and/or isoleucine (ILE) supplementation, total protein intake, and plasma amino acid profiles. Methods A chart review, of patients aged 31 days or older with MMA treated with dietary intervention and supplementation of VAL and/or ILE and followed at the Children's Hospital Colorado Inherited Metabolic Diseases Clinic. Dietary prescriptions and plasma amino acid concentrations were obtained at multiple time points.
Baseline mean total protein intake for five patients was 198% of Recommended Dietary Allowance (RDA) with 107% natural protein and 91% medical food. Following intervention, total protein intake ( = 0.0357), protein from medical food ( = 0.0142), and leucine (LEU) from medical food ( = 0.0276) were lower, with no significant change in natural protein intake ( = 0.2036). At baseline, 80% of patients received VAL supplementation and 100% received ILE supplementation. After intervention, only one of the cohort remained on supplementation. There was no statistically significant difference in plasma propiogenic amino acid concentrations.
Decreased intake of LEU from medical food allowed for discontinuation of amino acid supplementation, while meeting the RDA for protein.
甲基丙二酸血症（MMA）是一种常染色体隐性遗传病，采用无蛋白前体的医学食品治疗，并限制天然蛋白质的摄入。本回顾性图表研究旨在确定医学食品、缬氨酸（VAL）和/或异亮氨酸（ILE）补充剂、总蛋白摄入量和血浆氨基酸谱之间是否存在关联。
对在科罗拉多儿童医院遗传性代谢疾病诊所接受饮食干预和 VAL 和/或 ILE 补充治疗的年龄在 31 天及以上的 MMA 患者进行图表回顾。在多个时间点获取饮食处方和血浆氨基酸浓度。
五名患者的基线平均总蛋白摄入量为推荐膳食允许量（RDA）的 198%，其中天然蛋白占 107%，医学食品占 91%。干预后，总蛋白摄入量（=0.0357）、医学食品中的蛋白质（=0.0142）和医学食品中的亮氨酸（LEU）（=0.0276）降低，而天然蛋白摄入量无显著变化（=0.2036）。基线时，80%的患者接受 VAL 补充，100%的患者接受 ILE 补充。干预后，该队列中只有一名患者仍在接受补充治疗。丙酸生成氨基酸的血浆浓度无统计学差异。
减少医学食品中 LEU 的摄入可在满足蛋白质 RDA 的同时停止氨基酸补充。
