/maple syrup urine disease type 2

maple syrup urine disease type 2

Rare Disease

MONDO:0023693

Also Known As

maple syrup urine disease type 2MSUD type 2MSUD2

A maple syrup urine disease caused by mutations in DBT.

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

pyruvate dehydrogenase E3 deficiency

MONDO:0009529

maple syrup urine disease, mild variant

MONDO:0014057

classic maple syrup urine disease

MONDO:0017051

intermediate maple syrup urine disease

MONDO:0017052

intermittent maple syrup urine disease

MONDO:0017053

thiamine-responsive maple syrup urine disease

MONDO:0017054