Genopathy
Gene-Disorder Association · Article
Gene
BCKDHB
Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta
Disorder
Intermittent Maple Syrup Urine Disease
First reported 1972
Key publication · disorder The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria).Clinica chimica acta; international journal of clinical chemistry · 1972
Manually curated
Association Review

In brief

The association between BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) and Intermittent Maple Syrup Urine Disease is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
BCKDHB

The gene

1 source summary

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

Request access
04
Intermittent Maple Syrup Urine Disease

The disorder

5 database identifiers

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

Request access
05
Provenance

References & sources

3 references

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

Request access