Evidence map›Paper›PMID 41578284›Full record

ArticleOrphanet journal of rare diseases2026

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

Chaolong Xu, Hong Jin, Jiuwei Li, Zhimei Liu, Weihua Zhang, Ji Zhou, Ruoyu Duan, Yang Liu, Minhan Song, Zixuan Zhang and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Chaolong XuDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Hong JinDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Jiuwei LiDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Zhimei LiuDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Weihua ZhangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Ji ZhouDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Ruoyu DuanDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Yang LiuDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Minhan SongDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Zixuan ZhangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Tongyue LiDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Danmin ShenDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Ying ZouDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Junling WangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Hua LiDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Huafang JiangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. kyliezz1102@126.com.
Fang FangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. 15840365141@163.com.ORCID http://orcid.org/0000-0001-6362-7896

Funding

Beijing Municipal Commission of Education KZ202210025033
6 · The paper itself

Abstract

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

methodsThis 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).

resultsNine 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.

conclusionsNAD(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.

Indexed as

Mitochondrial DiseasesChildChild, PreschoolFemaleHumansInfantMaleNiacinamidePrognosisRetrospective StudiesNiacinamideNAD(P)HX dehydrataseNAD(P)HX epimeraseNicotinamideNicotinamide nucleotide repair systemTreatment

Identifiers

PMID41578284
PMCPMC12910793

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.