Evidence map›Paper›PMID 33411215›Full record

ArticleMetabolic brain disease2021

Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.

Haijun Yuan, Sipeng Deng, Wei Gao, Huaxin Li, Mei Yuan

Abstract readCase Reports
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In one paragraph

Article in Metabolic brain disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. A Novel HemizygousCase reports in endocrinology · 2026
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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

5 authors at 2 institutions in 1 country.

Haijun YuanDepartment of Emergence, the Second Hospital, University of South China, Hengyang, Hunan, China.
Sipeng DengInstitute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China.
Wei GaoInstitute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China.
Huaxin LiInstitute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China.
Mei YuanInstitute of Neurology, the Second Hospital, University of South China, Hengyang, Hunan, China. meimeihaijun@163.com.
University of South China · CN303 Hospital of People's Liberation Army · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two genetic disorders in the same patient, or an association between them. We report the case of a 23-year-old woman with cblC defect and KS. She first presented mild memory problems in puberty, which worsened in adulthood to progressive memory loss accompanied by slow and unsteady walking, slow response, inattention, cognitive impairment, insomnia, no sense of smell, and the lack of spontaneous puberty. Laboratory tests revealed gonadotropin deficiency, a low estrogen level, and remarkably elevated serum homocysteine and serum and urine organic acid levels. Whole-exome sequencing detected compound heterozygous variants in MMACHC [c.398_399del (p.Gln133Argfs*4) and c.482G > A (p.Arg161Gln)] and heterozygous variants in PROKR2 [c.337T > C (p.Tyr113His)]. Thus, clinical and genetic examinations confirmed the cblC disease and KS diagnoses. This report on coexisting cblC disease and KS caused by different pathogenic genes in a single patient enriches the clinical research on these two rare genetic diseases.

Indexed as

MutationVitamin B 12Exome SequencingFemaleHumansKallmann SyndromeOxidoreductasesPedigreeReceptors, G-Protein-CoupledReceptors, PeptideYoung AdultMMACHC protein, humanOxidoreductasesPROKR2 protein, humanReceptors, G-Protein-CoupledReceptors, PeptideVitamin B 12Case reportCobalamin C diseaseKallmann syndromeMMACHCPROKR2

Identifiers

PMID33411215
OpenAlexW3119079750

What OpenQuestion holds

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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.