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Tay-Sachs disease is a sphingolipidoses disorder characterized by failure to produce enzymes necessary for the degradation of sphingolipids in lysosomes, which leads to muscle weakness, ataxia, and mental and speech disorders. The treatment for such disorders commonly includes the use of miglustat, a medication that may cause several side effects (e.g., diarrhea and weight loss) that can contribute to the development of malnutrition. To our knowledge, no reports are available in the literature on the nutritional assessment and intervention recommended for those with Tay-Sachs disease. This case report aimed to describe the case of a female patient diagnosed with late-onset Tay-Sachs disease. The patient presented with diarrhea (adverse effect to treatment) and malnutrition when referred to the dietitian. She had significant muscle loss, asthenia, and weakness. The nutritional interventions prescribed were: dietary modification; supplementation with beta-hydroxymethyl-butyrate (HMB); use of lactase enzyme; probiotic (Saccharomyces boulardii); and oral nutritional supplement with low osmolarity. Recommendations aimed to meet the patient's nutritional requirements, including energy needs. In response to the nutrition intervention, the patient progressed with diarrhea cessation, weight recovery, and improvement in physical function measured by the dynamometer. As patients undergoing treatment for Tay-Sachs disease quickly progress to malnutrition, and given the lack of guidelines to inform healthcare providers on nutritional recommendations for this cohort, the description of a case that had positive progression may inform healthcare providers and help to initiate a discussion on the need to conduct research in this field for the development of therapeutic protocols and nutrition recommendations. |
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