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Disease

Maple Syrup urine disease

Branched-chain ketoacid dehydrogenase complex deficiency

A group of inherited disorders that impair breakdown of leucine, isoleucine, and valine.

MEDLINEPLUS GENETICS IDENTIFIERMaple syrup urine diseaseView source record ↗

Overview

EXPLORE BY LEVEL

The body uses a multi-part complex to break down three branched-chain amino acids. Changes in several different genes can affect that complex and cause these amino acids and related molecules to build up.

Quick Facts

AT A GLANCE
Associated genesBCKDHA, BCKDHB, DBT

Follow the Connections

See how Maple Syrup urine disease links to other biological records.

Open network
PathwayBranched-chain Amino acid catabolismaffects pathwayGeneBCKDHAassociated withGeneBCKDHBassociated withGeneDBTassociated with
All 4 Structured Connections
Maple Syrup urine disease · DiseaseAFFECTS PATHWAY →Branched-chain Amino acid catabolism · Pathway
BCKDHA · GeneASSOCIATED WITH →Maple Syrup urine disease · Disease
BCKDHB · GeneASSOCIATED WITH →Maple Syrup urine disease · Disease
DBT · GeneASSOCIATED WITH →Maple Syrup urine disease · Disease

Recommended Reading

Trusted references for learning more about Maple Syrup urine disease.

databaseMaple syrup urine diseaseMedlinePlus Genetics
Research Claims

Molecularly heterogeneous MSUD is usually autosomal recessive. The pathway map represents the shared oxidative-decarboxylation step but groups multiple substrates and downstream fates; it is not a diagnostic or management tool.