Genopathy
Gene-Disorder Association · Article
Gene
BCKDK
Branched Chain Keto Acid Dehydrogenase Kinase
Disorder
Maple Syrup Urine Disease, Type Ia
First reported 1954
Key publication · disorder A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.Pediatrics · 1954
Manually curated
Association Review

In brief

The association between BCKDK (Branched Chain Keto Acid Dehydrogenase Kinase) and Maple Syrup Urine Disease, Type Ia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 44
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.

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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
BCKDK

The gene

1 source summary

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

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04
Maple Syrup Urine Disease, Type Ia

The disorder

25 database identifiers

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

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05
Phenotype

Clinical features

28 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

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

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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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