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arakawa syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arakawa syndrome 2

MONDO:0021915

Also known as:Arakawa syndrome IIArakawa's syndrome 2Arakawa's syndrome II

Overview

A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.

ResearchLimited published research (6 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for arakawa syndrome 2.

6 publications have been identified in PubMed for arakawa syndrome 2. Research spans Case Report / Case Series (67%), Other (17%), and Basic Science / Preclinical (17%).

Recent Publications

Komori M (2025). [PMID: 40772180](https://pubmed.ncbi.nlm.nih.gov/40772180/). *Cureus*. [Case Report / Case Series]
Seki N (2025). [PMID: 40587904](https://pubmed.ncbi.nlm.nih.gov/40587904/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Ishida H (2025). [PMID: 40070605](https://pubmed.ncbi.nlm.nih.gov/40070605/). *Cureus*. [Case Report / Case Series]
Mima Y (2025). [PMID: 40196054](https://pubmed.ncbi.nlm.nih.gov/40196054/). *Cureus*. [Case Report / Case Series]
Arakawa I (2025). [PMID: 39977378](https://pubmed.ncbi.nlm.nih.gov/39977378/). *Crim Behav Ment Health*. [Other]
Gajawelli N (2024). [PMID: 38924235](https://pubmed.ncbi.nlm.nih.gov/38924235/). *Hum Brain Mapp*. [Basic Science / Preclinical]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:8265

Questions for Your Care Team

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arakawa syndrome 2

Overview

Research Landscape

Recent Publications

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team