Maple syrup urine disease type 1B(MSUD1B)

MedGen UID:: 443951
•Concept ID:: C2930990
•: Disease or Syndrome

Synonyms:	MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex; MSUD type 3 (formerly); MSUD type IB; MSUD1B

Gene (location): Gene(s) directly associated with this condition or phenotype.	BCKDHB (6q14.1)

Monarch Initiative:	MONDO:0023692
OMIM®:	248600

Definition

A maple syrup urine disease caused by mutations in BCKDHB. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Maple syrup urine disease
        Maple syrup urine disease type 1B

Recent clinical studies

Diagnosis

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y
Eur J Med Genet 2015 Nov;58(11):617-23. Epub 2015 Oct 8 doi: 10.1016/j.ejmg.2015.10.002. PMID: 26453840

See all (1)

Clinical prediction guides

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y
Eur J Med Genet 2015 Nov;58(11):617-23. Epub 2015 Oct 8 doi: 10.1016/j.ejmg.2015.10.002. PMID: 26453840

See all (1)

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Maple syrup urine disease type 1B(MSUD1B)

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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