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Objective <p>This study aims to explore the clinical characteristics of patients with NAD(P)HX metabolic deficiency and their prognosis after nicotinamide treatment.</p> Methods <p>This study retrospectively analyzed the clinical characteristics, efficacy of nicotinamide treatment, and prognosis of patients with genetically confirmed NAD(P)HX metabolic defects admitted to Beijing Children’s Hospital from January 2016 to January 2025, as well as cases previously reported in the literature. The log-rank test was used for survival analysis, and the prognosis was evaluated using the Modified Rankin Scale (mRS).</p> Results <p>Nine patients were analyzed, including eight with NAXE deficiency and one with NAXD deficiency, seven of whom received nicotinamide treatment (180–500&#xa0;mg/day). With a median follow-up of 3.92 years [range: 0.50–6 years, interquartile range (IQR) = 2.42 years], the overall prognosis was favourable. All seven treated patients survived, three of whom were able to attend school normally, and no significant adverse reactions were observed during treatment. Combined with previous studies, a total of 59 patients were included for analysis (14 cases of NAXD deficiency and 45 cases of NAXE deficiency), with an overall mortality rate of 66.7%. Among the 21 patients who received niacin/nicotinamide treatment, 17 survived (80.95%), whereas only two untreated patients survived, and 85.45% of the untreated patients died within 2 years of onset. Respiratory failure was the most common cause of death.</p> Conclusions <p>NAD(P)HX metabolic defects are rare mitochondrial diseases with high mortality and morbidity rates. Early identification and timely initiation of nicotinamide treatment are crucial for improving patient prognosis and quality of life.</p>

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Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月23日

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  • Chaolong Xu,
  • Hong Jin,
  • Jiuwei Li,
  • Zhimei Liu,
  • Weihua Zhang,
  • Ji Zhou,
  • Ruoyu Duan,
  • Yang Liu,
  • Minhan Song,
  • Zixuan Zhang,
  • Tongyue Li,
  • Danmin Shen,
  • Ying Zou,
  • Junling Wang,
  • Hua Li,
  • Huafang Jiang,
  • Fang Fang

摘要

Objective

This study aims to explore the clinical characteristics of patients with NAD(P)HX metabolic deficiency and their prognosis after nicotinamide treatment.

Methods

This study retrospectively analyzed the clinical characteristics, efficacy of nicotinamide treatment, and prognosis of patients with genetically confirmed NAD(P)HX metabolic defects admitted to Beijing Children’s Hospital from January 2016 to January 2025, as well as cases previously reported in the literature. The log-rank test was used for survival analysis, and the prognosis was evaluated using the Modified Rankin Scale (mRS).

Results

Nine patients were analyzed, including eight with NAXE deficiency and one with NAXD deficiency, seven of whom received nicotinamide treatment (180–500 mg/day). With a median follow-up of 3.92 years [range: 0.50–6 years, interquartile range (IQR) = 2.42 years], the overall prognosis was favourable. All seven treated patients survived, three of whom were able to attend school normally, and no significant adverse reactions were observed during treatment. Combined with previous studies, a total of 59 patients were included for analysis (14 cases of NAXD deficiency and 45 cases of NAXE deficiency), with an overall mortality rate of 66.7%. Among the 21 patients who received niacin/nicotinamide treatment, 17 survived (80.95%), whereas only two untreated patients survived, and 85.45% of the untreated patients died within 2 years of onset. Respiratory failure was the most common cause of death.

Conclusions

NAD(P)HX metabolic defects are rare mitochondrial diseases with high mortality and morbidity rates. Early identification and timely initiation of nicotinamide treatment are crucial for improving patient prognosis and quality of life.