Evidence map›Paper›PMID 40320765›Full record

ArticleJournal of inherited metabolic disease2025

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.

Sherry Fang, Peter T Clayton, Divyani Garg, Sangeetha Yoganathan, Maha S Zaki, Elin A Helgadottir, Vala K Palmadottir, Maude Landry, Sidney M Gospe, Kshitij Mankad and 3 more

Abstract readConsensus Statement
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Removal of Toxic Metabolites-Chelation: Manganese Disorders.Journal of inherited metabolic disease · 2025
    Review
  4. Review
  5. Review
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

13 authors.

Sherry FangDepartment of Metabolic Medicine, Great Ormond Street Hospital for Children, London, UK.
Peter T ClaytonDepartment of Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Divyani GargDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Sangeetha YoganathanPaediatric Neurology Unit, Department of Neurological Sciences, Christian Medical College, Vellore, India.
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Elin A HelgadottirLandspitali University Hospital, Reykjavík, Iceland.
Vala K PalmadottirLandspitali University Hospital, Reykjavík, Iceland.
Maude LandryThe Moncton Hospital, Horizon Health Network, Moncton, Canada.
Sidney M GospeDepartment of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.
Kshitij MankadDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.
Vincenzo BonifatiErasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Suvasini SharmaDepartment of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, Delhi, India.
Karin TuschlDepartment of Metabolic Medicine, Great Ormond Street Hospital for Children, London, UK.ORCID https://orcid.org/0000-0001-8599-8516

Funding

MRF_ MR/V006754/1
6 · The paper itself

Abstract

Hypermanganesaemia with Dystonia 1 and 2 (HMNDYT1 and 2) are inherited, autosomal recessive disorders caused by pathogenic variants in the genes encoding the manganese transporters SLC30A10 and SLC39A14, respectively. Impaired hepatic and enterocytic manganese uptake (SLC39A14) and excretion (SLC30A10) lead to deposition of manganese in the basal ganglia resulting in childhood-onset dystonia-parkinsonism. HMNDYT1 is characterized by additional features due to manganese accumulation in the liver causing cirrhosis, polycythaemia, and depleted iron stores. High blood manganese levels and pathognomonic MRI brain appearances of manganese deposition resulting in T1 hyperintensity of the basal ganglia are diagnostic clues. Treatment is limited to chelation therapy and iron supplementation that can prevent disease progression. Due to their rarity, the awareness of the inherited manganese transporter defects is limited. Here, we provide consensus expert recommendations for the diagnosis and treatment of patients with HMNDYT1 and 2 in order to facilitate early diagnosis and optimize clinical outcome. These recommendations were developed through an evidence and consensus-based process led by a group of 13 international experts across the disciplines of metabolic medicine, neurology, hematology, genetics, and radiology, and address the clinical presentation, diagnostic investigations, principles of treatment, and monitoring of patients with HMNDYT1 and 2.

Indexed as

Metal Metabolism, Inborn ErrorsCation Transport ProteinsDisease ManagementHumansMagnetic Resonance ImagingManganeseMetabolic DiseasesCation Transport ProteinsManganeseSLC30A10 protein, humanSLC39A14 protein, humanconsensus recommendationsHMNDYT1HMNDYT2manganeseSLC30A10SLC39A14

Identifiers

PMID40320765
PMCPMC12050909

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.