Genopathy
Gene-Disorder Association · Article
Gene
MTHFR
Methylenetetrahydrofolate Reductase
Disorder
Methylmalonic Acidemia
First reported 1997
Supporting publications 1
Key publication · gene–disorder Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects.Pediatric research · 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 MTHFR (Methylenetetrahydrofolate Reductase) 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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
MTHFR

The gene

1 source summary

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

Request access
04
Methylmalonic Acidemia

The disorder

3 database identifiers

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

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

3 references

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

Request access