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Background <p>The ketogenic diet (KD) is an established therapy for drug-resistant epilepsy; however, metabolic complications such as hyperlipidemia may limit its use. Epilepsy associated with <i>NALCN</i> mutations is rare, and data regarding the efficacy and safety of KD in this population remain limited.</p> Methods <p>We report the case of a 7-year-old boy with developmental and epileptic encephalopathy caused by a novel homozygous nonsense <i>NALCN</i> variant (NM_052867.2; c.2524&#xa0;C &gt; T, p.Arg842*).</p> Results <p>Initiation of a classic 3:1 KD using a high-fat ketogenic formula resulted in a marked reduction in seizure frequency and improvement in developmental status. However, severe hypertriglyceridemia developed within weeks (triglycerides up to 1580&#xa0;mg/dL), necessitating dietary modification. This case highlights reversible, formula-induced hypertriglyceridemia in a child with <i>NALCN</i>-related epilepsy receiving a classic KD.</p> Conclusions <p>KD can be effective in <i>NALCN</i> channelopathies. Nevertheless, personalized dietary modification, favoring MCTs or monounsaturated fats over saturated long-chain triglycerides, and careful monitoring of the lipid profile are essential to ensure metabolic safety and long-term treatment sustainability.</p>

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Reversible high-fat ketogenic formula-induced hypertriglyceridemia in a child with NALCN mutation on a ketogenic diet: a case report

  • 期刊论文

  • 发表日期：

    2026年5月20日

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  • Amany Elbarky,
  • Heba Dawoud,
  • Khalid Elsayed Elballat,
  • Hend Gamal,
  • Abeer Salamah

摘要

Background

The ketogenic diet (KD) is an established therapy for drug-resistant epilepsy; however, metabolic complications such as hyperlipidemia may limit its use. Epilepsy associated with NALCN mutations is rare, and data regarding the efficacy and safety of KD in this population remain limited.

Methods

We report the case of a 7-year-old boy with developmental and epileptic encephalopathy caused by a novel homozygous nonsense NALCN variant (NM_052867.2; c.2524 C > T, p.Arg842*).

Results

Initiation of a classic 3:1 KD using a high-fat ketogenic formula resulted in a marked reduction in seizure frequency and improvement in developmental status. However, severe hypertriglyceridemia developed within weeks (triglycerides up to 1580 mg/dL), necessitating dietary modification. This case highlights reversible, formula-induced hypertriglyceridemia in a child with NALCN-related epilepsy receiving a classic KD.

Conclusions

KD can be effective in NALCN channelopathies. Nevertheless, personalized dietary modification, favoring MCTs or monounsaturated fats over saturated long-chain triglycerides, and careful monitoring of the lipid profile are essential to ensure metabolic safety and long-term treatment sustainability.