Evidence map›Paper›PMID 33996359›Full record

ArticleIntractable & rare diseases research2021

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

Ryohei Norioka, Shinsuke Tobisawa, Ryusei Nishigori, Tomiko Kuhara, Masahide Yazaki, Masayoshi Nagao, Toshihiro Ohura, Yasuyuki Takai, Asuka Funai, Kazuhito Miyamoto and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Intractable & rare diseases research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 38% of its field
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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Health Status and Individual Care Needs of Disabled Elderly at Home in Different Types of Care.International journal of environmental research and public health · 2022
    Article
  3. Article
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

12 authors at 4 institutions in 1 country.

Ryohei NoriokaDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Shinsuke TobisawaDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Ryusei NishigoriDepartment of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Tomiko KuharaJapan Clinical Metabolomics Institute, Ishikawa, Japan.
Masahide YazakiNeurohealth Innovation Division, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.
Masayoshi NagaoDepartment of Pediatrics, Hokkaido Medical Center, Hokkaido, Japan.
Toshihiro OhuraDivision of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.
Yasuyuki TakaiDepartment of Ophthalmology, Juntendo University Urayasu Hospital, Tokyo, Japan.
Asuka FunaiDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Kazuhito MiyamotoDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Akihiro KawataDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Kazushi TakahashiDepartment of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Tokyo Metropolitan Neurological Hospital · JPJuntendo University Urayasu Hospital · JPKyoto University · JPSendai City Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of saccharopinuria with hyperammonemia and hypercitrullinemia in a Japanese woman who presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia. Blood amino acid analysis revealed an increase in citrulline, cystine, and lysine levels, and urine amino acid analysis showed increased citrulline and cystine levels. Urine metabolomics revealed an increased saccharopine level, leading to the definitive diagnosis of saccharopinuria. In western blots of liver biopsy samples, normal citrin levels were observed, suggesting that adult-onset citrullinemia type 2 (CTLN2) was not present. In addition, decreased argininosuccinate synthetase (ASS) levels were observed, and

Indexed as

elderly-onset neurological disordershyperammonemiahypercitrullinemiametabolomicssaccharopinuria

Identifiers

PMID33996359
PMCPMC8122307
OpenAlexW3145790651

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.