Genopathy
Gene-Disorder Association · Article
Gene
MTR
5-Methyltetrahydrofolate-Homocysteine Methyltransferase
Disorder
Methylmalonic Acidemia
First reported 1997
Supporting publications 1
Key publication · gene–disorder Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).Journal of inherited metabolic disease · 1997
Key publication · disorder Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.Archives of disease in childhood · 1967
Manually curated
Association Review

In brief

The association between MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase) and Methylmalonic Acidemia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
MTR

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Methylmalonic Acidemia

The disorder

3 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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06
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

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