Nutritional status of children affected by X-linked adrenoleukodystrophy

J Hum Nutr Diet. 2023 Aug;36(4):1316-1326. doi: 10.1111/jhn.13173. Epub 2023 Apr 11.

Abstract

Background: Adrenoleukodystrophy (ALD) is a rare X-linked metabolic disorder that causes the accumulation of very-long-chain fatty acids (VLCFAs) (C26:0) and the subsequent variety of clinical and neurological symptoms. Little is known about nutritional status and dietary habits of children affected by ALD, and so the present study aimed to assess nutritional status and food intake in children with ALD, also exploring the relationship between food intake and the consumption of disease-specific dietary supplements to reduce blood C26:0 concentrations and increase monounsaturated fatty acids (C26:1).

Methods: All patients underwent a clinical and neurological evaluation and a comprehensive nutritional assessment. The association of VLCFA concentrations with dietary lipids was assessed.

Results: Nine boys (11.49 ± 3.61 years) were enrolled in a cross-sectional study. All patients were normal weight, with normal resting energy expenditure. Only six of nine patients followed the low-fat diet and dietary supplements. An inverse association was found between the food intake of polyunsaturated lipids and C26:0; conversely, the C26:0 was positively associated with the dietary saturated lipids. When consumed, dietary supplement consumption correlated positively with C26:1 (ρ = 0.917, p = 0.029) and no correlation was found with C26:0 (ρ = 0.410, p = 0,493).

Conclusions: No children were found to be malnourished or overweight or obese; however, half of the children reported excessive body fat, probably as a result of the pharmacotherapies. A low-fat diet could be adjuvant in the management of the accumulation of VLCFAs, but poor dietary compliance to disease-specific nutritional guidelines appears to be a major problem of this condition and underlines the need for a structured and personalised nutritional management in ALD disease.

Keywords: adrenoleukodystrophy; diet therapy; fatty acids; nutritional status.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenoleukodystrophy* / complications
  • Adrenoleukodystrophy* / metabolism
  • Cross-Sectional Studies
  • Dietary Fats
  • Fatty Acids
  • Humans
  • Male
  • Nutritional Status

Substances

  • Dietary Fats
  • Fatty Acids

Grants and funding